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57647 DHX37

57647

DHX37

DEAH-box helicase 37

protein-coding

Homo sapiens

基因描述

Type Description
Definition DEAH-box helicase 37

研究结论

Date Results Publications
2020-06-13 11:36:00 Results identified heterozygous missense pathogenic variants involving DHX37 gene as a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and testicular regression syndrome (TRS), showing that these conditions are part of a clinical spectrum. Some of the variants are clustered in two highly conserved functional domains. 31337883
2020-06-06 13:58:00 In 46,XY Gonadal dysgenesis, we identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene.Two variants were recurrent: p.Arg308Gln and p.Arg674Trp. The variants were specifically associated with embryonic testicular regression syndrome. DHX37 is a player in the complex cascade of male gonadal differentiation and maintenance. 31287541

名称对应

Type IDs
Synonymous DDX37, Dhr1
Gene
UniProtKB-ID: DHX37_HUMAN
UniprotKB: Q8IY37
UniParc: UPI00000742DC
EMBL: AB040950, BC037964, BC002575
Ensembl: ENSG00000150990
KO: hsa:57647
Nucleutide sequences
EMBL-CDS: AAH37964.1, BAA96041.1, AAH02575.2
Ensembl_TRS: ENST00000308736
Protein sequencees
Ensembl_PRO: ENSP00000311135
RefSeq: XP_005253647.1, XP_011536900.1, XP_011536902.1, NP_116045.2
Others
UniRef100: UniRef100_Q8IY37
UniRef90: UniRef90_Q8IY37
UniRef50: UniRef50_Q8IY37
UniGene: Hs.107382
CCDS: CCDS9261.1

全选

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