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50814 NSDHL

50814

NSDHL

NAD(P) dependent steroid dehydrogenase-like

protein-coding

Homo sapiens

基因描述

Type Description
Definition NAD(P) dependent steroid dehydrogenase-like

研究结论

Date Results Publications
2021-02-20 13:28:00 Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity. 32140747
2020-12-19 13:41:00 NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis. 32366230
2020-01-18 11:48:00 NSDHL gene mutations associated with CHILD syndrome are common in sporadic oral verruciform xanthoma cases, suggesting that these mutations confer a greater risk for the development of epithelial barrier defects 31078502
2019-05-25 12:06:00 NSDHL-containing duplication at chromosome Xq28 inherited from his mother in a male patient with autism spectrum disorder has been reported. 30376821
2016-09-17 12:12:00 Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene. 26459993

名称对应

Type IDs
Synonymous H105E3, SDR31E1, XAP104
Gene
UniProtKB-ID: NSDHL_HUMAN, A0A384NPZ7_HUMAN
UniprotKB: Q15738, A0A384NPZ7
UniParc: UPI0000000C8A
EMBL: BC007816, BC000245, U47105, CH471172, U82671, GQ900951
Ensembl: ENSG00000147383
KO: hsa:50814
Nucleutide sequences
EMBL-CDS: AAH00245.1, AAC50558.2, EAW72899.1, EAW72898.1, AAH07816.1, ADO22468.1
Ensembl_TRS: ENST00000370274, ENST00000440023
Protein sequencees
Ensembl_PRO: ENSP00000391854, ENSP00000359297
RefSeq: NP_001123237.1, XP_016885053.1, XP_011529480.1, NP_057006.1
Others
UniRef100: UniRef100_Q15738
UniRef90: UniRef90_Q15738
UniRef50: UniRef50_Q15738
UniGene: Hs.57698
CCDS: CCDS14717.1

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