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79644 SRD5A3

79644

SRD5A3

steroid 5 alpha-reductase 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition steroid 5 alpha-reductase 3

研究结论

Date Results Publications
2018-08-11 10:10:00 Study revealed for the first time the presence of 5alpha-reductase-R3 mRNA in human hair. 29185104
2017-12-16 12:31:00 Findings suggest that 5alpha-reductases (5-AR) isoenzymes could be explored as a therapeutic target for urothelial bladder cancer (UBC) with 5alpha-reductase inhibitors (5-ARI). 29187470
2017-10-21 13:13:00 We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement 27480077
2017-06-10 12:50:00 Although 4-dione is the main source of 5alpha-dihydrotestosterone in human preadipocytes, production of this steroid by 5 alpha-reductase isoenzymes (SRD5A1, 2 and 3) mediates the inhibitory effect of both 4-dione and testosterone on preadipocyte differentiation. 26855069
2017-04-29 10:09:00 Mutations in the SRD5A3 gene may cause early-onset retinal dystrophy, a previously underdescribed feature of the SRD5A3-CDG disorder that is progressive and may lead to serious visual impairment. 28253385

名称对应

Type IDs
Synonymous CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1
Gene
UniProtKB-ID: PORED_HUMAN
UniprotKB: Q9H8P0
UniParc: UPI0000043F70
EMBL: CR457312, BC002480, AK023414, AC064824, CH471057
Ensembl: ENSG00000128039
KO: hsa:79644
Nucleutide sequences
EMBL-CDS: AAY40904.1, EAX05465.1, AAH02480.1, BAB14568.1, CAG33593.1
Ensembl_TRS: ENST00000264228
Protein sequencees
Ensembl_PRO: ENSP00000264228
RefSeq: XP_016864090.1, XP_005265823.1, NP_078868.1, XP_005265824.1
Others
UniRef100: UniRef100_Q9H8P0
UniRef90: UniRef90_Q9H8P0
UniRef50: UniRef50_Q9H8P0
UniGene: Hs.39311
CCDS: CCDS3498.1

全选

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