Rövidítések jegyzéke

 

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Gének
 

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ABCA1
ATP Binding Cassette Subfamily A Member 1
ACSL4
Acyl-CoA Synthetase Long Chain Family Member 4
ADIPOR1
Adiponectin Receptor 1
AFF2 (FMR2)
AF4/FMR2 Family Member 2 (korábbi nevén: Fragile X Mental Retardation 2)
AGTR2
Angiotensin II Receptor Type 2
AHR
Aryl Hydrocarbon Receptor
AIP
Aril Hydrocarbon Receptor Interacting Protein
AIRE
Autoimmune Regulator
AMBP
Alpha-1-Microglobulin/Bikunin Precursor
AMH
Anti-Mullerian Hormone
AMHR2
Anti-Mullerian Hormone Receptor Type 2
ANOS1 (KAL1, ADMLX)
Anosmin 1 (korábbi nevén: Kallmann Syndrome Interval Gene 1, Adhesion Molekule-Like)
AR
Androgen Receptor
AREG
Amphiregulin
ARL6
ADP Ribosylation Factor Like GTPase 6
ATM
ATM Serine/Threonine Kinase (korábbi nevén: Ataxia-Telangiectasia Mutated)
BBIP1
BBSome Interacting Protein 1
BBS1
Bardet-Biedl Syndrome 1
BBS2
Bardet-Biedl Syndrome 2
BBS4
Bardet-Biedl Syndrome 4
BBS5
Bardet-Biedl Syndrome 5
BBS7
Bardet-Biedl Syndrome 7
BBS9
Bardet-Biedl Syndrome 9
BBS10
Bardet-Biedl Syndrome 10
BBS12
Bardet-Biedl Syndrome 12
B4GALT1
Beta-1,4-Galactosyltransferase 1
BCL2
BCL2, Apoptosis Regulator
BCL2L2
BCL2 Like 2
BCORL1
BCL6 Corepressor Like 1
BHLHB9
Basic Helix-Loop-Helix Family Member B9
BIRC5
Baculoviral IAP Repeat Containing 5
BLM (RECQL3)
Bloom Syndrome RecQ Like Helicase
BMP15
Bone Morphogenetic Protein 15
BMP4
Bone Morphogenetic Protein 4
BMP7
Bone Morphogenetic Protein 7
BMPR1B
Bone Morphogenetic Protein Receptor Type IB
BRCA1
BRCA1 DNA Repair Associated
BRCA2
BRCA2 DNA Repair Associated
BSG
Basigin (Ok Blood Group)
CFAP418
Cilia And Flagella Associated Protein 418
CBS
Cystathionine-Beta-Synthase
CBX2
Chrombox 2 (korábbi nevén: Chromobox homolog 2 (Drosophila Polycomb Class))
CC2D2A
Coiled-Coil And C2 Domain Containing 2A
CCDC57
Coiled-Coil Domain Containing 57
CCND2
Cyclin D2
CD81
CD81 Molecule
CD9
Cell Growth-Inhibiting Gene 2 Protein
CDK4
Cyclin Dependent Kinase 4
CDKN1B
Cyclin Dependent Kinase Inhibitor 1B
CDKN1C
Cyclin-dependent kinase inhibitor 1C
CDKN2A (P14, P16, ARF)
Cyclin Dependent Kinase Inhibitor 2A (korábbi nevén: Alternative Reading Frame Protein)
CDKN2B (P15, MTS2)
Cyclin Dependent Kinase Inhibitor 2B (korábbi nevén: Multiplex Tumour Suppressor2)
CDKN2BAS
CDKN2B Antisense RNA 1
CEBPB
CCAAT Enhancer Binding Protein Beta
CENP-I
Centromere Protein I
CEP19
Centrosomal Protein 19
CEP290
Centrosomal Protein 290
CGA
Glycoprotein Hormones, Alpha Polypeptide (korábbi nevén: Chorionic Gonadotropin, Alpha Polypeptide; egyéb elnevezései: FSHA (Follicle-Stimulating Hormone Alpha Subunit), LHA (Luteinizing Hormone Alpha Chain), TSHA (Thyroid-Stimulating Hormone Alpha Chain))
CHD7
Chromodomain helicase DNS-binding protein7
CLDN14
Claudin 14
CLPP
Caseinolytic Mitochondrial Matrix Peptidase Proteolytic Subunit
COMT
Catechol-O-Methyltransferase
CRH (CRH1, CRF)
Corticotropin Releasing Hormone
CSF2RA
Colony Stimulating Factor 2 Receptor Subunit Alpha
CT47A11
Cancer/Testis Antigen Family 47 Member A11
CYP11A
Cytochrome P450 Family 11 Subfamily A Member 1
CYP11B1
Cytochrome P450 Family 11 Subfamily B Member 1
CYP11B2
Cytochrome P450 Family 11 Subfamily B Member 2
CYP17
Cytochrome P450 Family 17 Subfamily A Member 1
CYP19A1
Cytochrome P450 Family 19 Subfamily A Member 1
CYP1A1
Cytochrome P450 Family 1 Subfamily A Member 1
CYP21A2
Cytochrome P450 Family 21 Subfamily A Member 2
CYP40
Peptidylprolyl Isomerase D
CSF1
Colony Stimulating Factor 1
CSF2
Colony Stimulating Factor 2
DACH2
Dachshund Family Transcription Factor 2
DAZAP1
DAZ-Associated Protein 1
DAZL
Deleted in Azoospermia Like
DDC
Dopa Decarboxylase
DDR2
Discoidin Domain Receptor Tyrosine Kinase 2
DHCR
24-Dehydrocholesterol Reductase
DHCR7
7-Dehydrocholesterol Rreductase
DIAPH2
Diaphanous Related Formin 2
DLL3
Delta Like Canonical Notch Ligand 3
DMRT1
Doublesex and Mab-3 Related Transcription Factor 1
DMRT2
Doublesex and Mab-3 Related Transcription Factor 2
DMRT3
Doublesex and Mab-3 Related Transcription Factor 3
DNMT1
DNA Methyltransferase 1
DNMT3L
DNA Methyltransferase 3 Like
DPPA3
Developmental Pluripotency Associated 3
EGR1
Early Growth Response
EIF2B
Eukaryotic Translation Initiation Factor 2B
EIF2B2
Eukaryotic Translation Initiation Factor 2B Subunit Beta
EIF2B4
Eukaryotic Translation Initiation Factor 2B Subunit Delta
EIF2B5
Eukaryotic Translation Initiation Factor 2B Subunit Epsilon
ERAL1
ERA-Like Protein 1
EREG
Epiregulin
ESCO2
Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2
ESR (ESR1)
Estrogen Receptor 1
F2
Coagulation factor II
F5
Coagulation factor V
FASN
Fatty Acid Synthase
FGF8
Fibroblast Growth Factor 8
FGF9
Fibroblast Growth Factor 9
FGFR1
Fibroblast Growth Factor Receptor 1
FGFR2
Fibroblast Growth Factor Receptor 2
FGFR3
Fibroblast Growth Factor Receptor 3
FH
Fumarate-Hydratase
FKBP4
FKBP Prolyl Isomerase 4
FMR1
FMRP Translational Regulator 1 (korábbi nevén: Fragile X Mental Retardation 1)
FOXB1
Forkhead Box B1
FOXL2
Forkhead Box L2 or Forkhead Transcription Factor
FOXO4
Forkhead Box O4
FRAS1
Fraser Extracellular Matrix Complex Subunit 1
FREM2
FRAS1 Related Extracellular Matrix 2
FSHB
Follicle Stimulating Hormone Subunit Beta
FSHR
Follicle Stimulating Hormone Receptor
FZD4
Frizzled Class Receptor 1
GALT
Galactose-1-Phosphate Uridylyltransferase
GDF9
Growth Differentiation Factor 9
GDI1
GDP Dissociation Inhibitor 1
GH1
Growth Hormone 1
GHRH
Growth Hormone Releasing Hormone
GHRHR
Gonadotropin Releasing Hormone Receptor
GJA1
Gap Junction Protein Alpha 1
GLD1
Glucagon Like Peptide 1 Receptor
GNAS1 (GNAS1)
GNAS Complex Locus (Guanine Nucleotide Biding Protein, Alpha-Stimulating Activity Polypeptide 1)
GNRH1
Gonadotropin Releasing Hormone 1
GPR54 or KISS1R
KISS1 Receptor
GREB1
Growth Regulating Estrogen Receptor Binding 1
GRIP1
Glutamate Receptor Interacting Protein 1
H19
H19 Imprinted Maternally Expressed Transcript
HARS2
Histidyl-TRNA Synthetase 2, Mitochondrial
HDAC8
Histone Deacetylase 8
HES7
Hes Family BHLH Transcription Factor 7
HOXA11
Homeobox A11
HOXA10
Homeobox A10
HOXA13
Homeobox A713
HOXA7
Homeobox A7
HS6ST1
HS6ST2  
Heparan Sulfate 6-O-Sulfotransferase 1
Heparan Sulfate 6-O-Sulfotransferase 2
HSD11B1
Hydroxysteroid 11-Beta Dehydrogenase 1
HSD11B2
Hydroxysteroid 11-Beta Dehydrogenase 2
HSD17B1
Hydroxysteroid 17-Beta Dehydrogenase 1
HSD17B3
Hydroxysteroid 17-Beta Dehydrogenase 3
HSD17B4
Hydroxysteroid 17-Beta Dehydrogenase 4
HSD3B1
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 1
HSD3B2
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 2
HSF1
Heat Shock Transcription Factor 1
HYLS1
HYLS1 Centriolar And Ciliogenesis Associated
ID4
Inhibitor of DNA Binding 4, HLH Protein
IFT172
Intraflagellar Transport 172
IFT27
Intraflagellar Transport 27
IGF2
Insulin Like Growth Factor 2
IL10 (CSIF)
Interleukin 10 (korábbi nevén: Cytokine Synthesis Inhibitory Factor)
IL11RA
Interleukin 11 Receptor Subunit Alpha
IL6 (BSF2)
Interleukin 6 (korábbi nevén: B-Cell Stimulatory Factor 2)
IL6ST
Interleukin 6 Signal Transducer
INHBB
Inhibin Subunit Beta B
INPP5E
Inositol Polyphosphate-5-Phosphatase E
INSR
Insulin Receptor
IRF6
Interferon Regulatory Factor 6
IRS1
Insulin Receptor Substrate 1
KCNJ13
Potassium Inwardly Rectifying Channel Subfamily J Member 13
KCNQ1OT1
KCNQ1 Opposite Strand/Antisense Transcript 1
KDM5C
Lysine Demethylase 5C
KDM6A
Lysine Demethylase 6A
KIF7
Kinesin Family Member 7
KISS1
KiSS-1 Metastasis Suppressor
KISS1R (GPR54)
KISS1 Receptor (korábbi nevén: G Potein-Coupled Receptor 54)
KIT
KIT Proto-Oncogene Receptor Tyrosine Kinase
LARS2
Leucyl-TRNA Synthetase 2, Mitochondrial
LEP
Leptin
LEPR
Leptin Receptor
LFNG
LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase
LHB
Luteinizing Hormone Subunit Beta
LHCGR (LHR)
Luteinizing Hormone/Choriogonadotropin Receptor
LHX1
LIM Homeobox 1
LHX8
LIM Homeobox 8
LIF
LIF Interleukin 6 Family Cytokine
LMNA
Lamin A/C
LZTFL1
Leucine Zipper Transcription Factor Like 1
MAMLD1
Mastermind-Like Domain-Cotaining Protein 1
MEN1
Menin
MESP2
Mesoderm Posterior BHLH Transcription Factor 2
MKKS
MKKS Centrosomal Shuttling Protein
MKS1
MKS transition zone complex subunit 1 (korábbi nevén: Meckel Syndrome Type 1 Protein)
MLH1
MutL Homolog 1
MMP1
Matrix Metallopeptidase 1
MMP9
Matrix Metallopeptidase 9
MSH2
MutS Homolog 2
MSH3
MutS Homolog 3
MSH6
MutS Homolog 6
MTHFR
Methylenetetrahydrofolate Reductase
NANOS3
Nanos C2HC-Type Zinc Finger 3
NAT2
N-Acetyltransferase 2
NBN
Nibrin
NCOA
Nuclear Receptor Coactivator 4
NDP
Norrin Cystine Knot Growth Factor
NFE2L3
Nuclear Factor, Erythroid 2 Like 3
NIPBL
NIPBL Cohesin Loading Factor
NOBOX
Newborn Ovary Homeobox-Encoding Gene
NOG
Noggin
NOS
Nitric Oxide Synthase 3
NPEPPS
Aminopeptidase Puromycin Sensitive
NPHP1
Nephrocystin 1
NPH2
Inversin
NPPB
Natriuretic Peptide B
NR0B1 (DAX1)
Nuclear Receptor Subfamily 0 group B member 1 (korábbi nevén: Dosage-Sensitive Sex Reversal)
NR2C2
Nuclear Receptor Subfamily 2 Group C Member 2
NR3C1
Nuclear Receptor Subfamily 3 Group C Member 1 (korábbi nevén: Glucocorticoid Receptor)
NR5A1 (SF-1)
Nuclear Receptor Subfamily 5 Group A Member 1 (korábbi nevén: Steroidogenic Factor 1)
NRIP1
Nuclear Receptor Interacting Protein 1
NXF5
Nuclear RNA Export Factor 5
OAS1D
2’-5’-Oligoadenylate Synthetase 1
OVOL1
Ovo, Like Transcriptional Repressor 1
OXTR
Oxytocin Receptor
PAD6
Peptidyl Arginine Deiminase 6
PAX2
Paired Box 2
PAX5
Paired Box 5
PBX1
PBX Homeobox 1
PCYT1B
Phosphate Cytidylyltransferase 1, Choline, Beta
PDE1A
Phosphodiesterase 1A
PDE4D
Phosphodiesterase 4D
PGRMC1
Progesterone Receptor Membrane Component 1
PMM2
Phosphomannomutase 2
PMS1
PMS1 Homolog 1, Mismatch Repair System Component
PMS2
PMS1 Homolog 2, Mismatch Repair System Component
POF1B
POF1B Actin Binding Protein (korábbi nevén: Premature Ovarian Failure, 1B)
POLG
DNA Polymerase Gamma, Catalytic Subunit
POMC
Proopiomelanocortin
POR
Cytochrome P450 Oxidoreductase
PR
Progesterone Receptor
PRDM1
PR/SET Domain 1
PRKAR1A
Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha
PRL
Prolactin
PROK2
Prokineticin 2
PROKR2
Prokineticin receptor 2
PTGER2
Prostaglandin E Receptor 2
PTGFR
Prostaglandin F Receptor
PTGS2
Prostaglandin-Endoperoxide Synthase 2
RAD21
RAD21 Cohesin Complex Component
RBM8A
RNA Binding Motif Protein 8A
RPL10 (QM)
Ribosomal Protein L10
RECQL4
RecQ Like Helicase 4
RIPK4
Receptor Interacting Serine/Threonine Kinase 4
RPGRIP1L
RPGRIP1 Like
RSPO1
R-Spondin 1
SDCCAG8
SHH Signaling And Ciliogenesis Regulator SDCCAG8
SEMA3A
Semaphorin 3A
SF1
Splicing Factor 1
SGO2
Shugoshin 2
SH2B1
SH2B Adaptor Protein1
SHOX
Short Stature Homeobox
SLC16A3
Solute Carrier Family 16 Member 3
SMAD1
SMAD Family Member 1
SMAD3
SMAD Family Member 3
SMAD5
SMAD Family Member 5
SMC1A
Structural Maintenance Of Chromosomes 1A
SMC3
Structural Maintenance Of Chromosomes 3
SOHLH2
Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 2
SOX3
SRY-BOX Trascription Factor 3
SOX9
SRY-BOX Trascription Factor 9
SOX10
SRY-BOX Transcription Factor 10
SRB1
Scavenger Receptor Class B Member 1
SRC
SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase
SRD5A2
Steroid 5 Alpha-Reductase 2
SRY
Sex-Determining Region Y
SST
Somatostatin
STAR
Steroidogenic Acute Regulatory Protein
STK11
Serine/Threonine kinase 11
SULT1E1
Sulfotransferase Family 1E Member 1
SULT2A1
Sulfotransferase Family 2A Member 1
TAC3
Tachykinin Precursor 3
TACR3
Tachykinin Receptor 3
TAF4B
TATA-Box Binding Protein Associated Factor 4b
TBX6
T-Box Transcription Factor 6
TCF21
Transcription Factor 21
TERT
Telomerase Reverse Transcriptase
TGFBR1
Transforming Growth Factor Beta Receptor 1
TGFBR2
Transforming Growth Factor Beta Receptor 2
TGFBR3
Transforming Growth Factor Beta Receptor 3
THBS1
Thrombospondin 1
TIMP1
TIMP Metallopeptidase Inhibitor 1
TIMP3
TIMP Metallopeptidase Inhibitor 3
TMEM216
Transmembrane Protein 216
TMEM67 (MKS3)
Transmembrane Protein 67
TP53
Tumor Protein P53
TP73
Tumor Protein P73
TRH
Thyrotropin Releasing Hormone
TRIM32
Tripartite Motif Containing 32
TSHB
Thyroid-Stimulating Hormone Subunit Beta
TSPY
Testis Specific Protein Y
TTC8
Tetratricopeptide Repeat Domain 8
TWNK
Twinkle MtDNA Helicase
TWNK (C10orf2)
Twinkle mtDNA Helicase (korábbi nevén: Chromosome 10 Open Reading Frame 2)
UBE2A
Ubiquitin Conjugating Enzyme E2 A
UBEBA
Ubiquitin Protein Ligase E3A
USP9X
Ubiquitin Specific Peptidase 9 X-Linked
VEZT
Vezatin, Adherens Junctions Transmembrane Protein
VHL
Von Hippel-Lindau Tumor Suppressor
WDR1
WD Repeat Domain 1
WNT2
Wnt Family Member 2 (korábbi nevén: Wingless-Type MMTV Integration Site, Family Member 2)
WNT4
Wnt Family Member 4 (korábbi nevén: Wingless-Type MMTV Integration Site, Family Member 4)
WRN (RECQL2)
WRN RecQ Like Helicase (korábbi nevén: Werner Syndrome RecQ Like Helicase)
WT1
WT1 Transcription Factor (korábbi nevén: Wilms Tumor 1)
XIST
X Inactive Specific Transcript
YBX2
Y-Box Binding Protein 2
ZFX
Zinc Finger Protein X-Linked
ZP1
Zona Pellucida Glycoprotein 1
ZP2
Zona Pellucida Glycoprotein 2
ZP3
Zona Pellucida Glycoprotein 3
 
 

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Hormonok
 

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17-OHP
17-hidroxiprogeszteron
ACTH
adrenokortikotrop hormon
AMH (MIF)
anti-Müller hormon (Müllerian inhibitory factor)
CRH
kortikotropin serkentő hormon
DHEA
dehidroepiandroszteron
DHEA-S
dehidroepiandroszteron-szulfát
DOC
dezoxikortikoszteron
DOC, B
kortikoszteron
DOC, S
11-dezoxikortizol
E3
ösztriol
FSH
follikulus stimuláló hormon
GH
növekedési (growth) hormon
GHRH
növekedési hormon serkentő hormon
GIH
szomatosztatin (growth hormone inhibiting hormone)
GLP-1
glükagonszerű peptid 1 hormon
GnRH
gonadotropin serkentő (releasing) hormon
HCG
humán choriális gonadotropin hormon
IGF-1
inzulinszerű növekedési faktor-1
LH
luteinizáló hormon
LHβ
luteinizáló hormon béta alegység
PIH
dopamin (prolactin inhibiting hormon)
PRL
prolaktin hormon
RH
releasing hormonok
TRH
tireotropin serkentő hormon
TSH
tireoidea stimuláló hormon
 
 

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Enzimek
 

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Új nómenklatúra
Enzimcsaládnak megfelelő elnevezés
Funkcionális elnevezés
(a kórképeknél is ezt használjuk)
3β-HSD
3β-HSD
3β-hidroxiszteroid-dehidrogenáz
3β-HSD1
3β-HSD/5Δ-4Δ-izomeráz
3β-hidroxiszteroid-dehidrogenáz/ izomeráz1
3β-HSD2
3β-HSD/5Δ-4Δ-izomeráz
3β-hidroxiszteroid-dehidrogenáz/ izomeráz2
anti-GAD
anti-glutamát-dekarboxiláz
CYP
citokróm P450 enzimcsalád
CYP11A
P450scc (side chain cleavage)
koleszterin-dezmoláz (koleszterinoldallánc-hasító-enzim)
CYP11B1
P450-11β
11β-hidroxiláz
CYP11B2
P450-aldo-szteroid-18-hidroxiláz
aldoszteron-szintáz (kortikoszteron-metiloxidáz), 18-hidroxiláz/ 18-oxigenáz
CYP17
P450c17
17α-hidroxiláz/ c17,20-liáz
CYP19
P450arom
aromatáz (ösztrogénszintáz)
CYP21
P450c21
21-hidroxiláz
DDC
dopa dekarboxiláz
FAS
zsírsav szintáz
FH
fumarát-hidratáz
HSD
hidroxiszteroid-dehidrogenáz enzimcsalád
HSD11B1
11β-HSD1
11β-hidroxiszteroid-dehidrogenáz 1/ kortizon reduktáz
HSD11B2
11β-HSD2
11β-hidroxiszteroid-dehidrogenáz 2
17HSD1
17β-HSD1
ösztradiol-17β-dehidrogenáz/ ösztrogén-17-oxidoreduktáz
17HSD3
17β-HSD3
tesztikuláris 17β-hidroxiszteroid-dehidrogenáz/ izomeráz3
SRD5A1
szteroid-5α-reduktáz 1
5α-reduktáz 1
SRD5A2
szteroid-5α-reduktáz 2
5α-reduktáz 2
SRD5A3
szteroid-5α-reduktáz 3
5α-reduktáz 3
StAR
STARD1
szteroidogenezist akutan reguláló protein
SULT2A1
dehidro-epiandroszteron szulfotranszferáz
szulfotranszferáz
 
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