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154288 KHDC3L

154288

KHDC3L

KH domain containing 3 like, subcortical maternal complex member

protein-coding

Homo sapiens

基因描述

Type Description
Definition KH domain containing 3 like, subcortical maternal complex member

研究结论

Date Results Publications
2020-02-29 11:35:00 The study specified KHDC3L as a new recurrent pregnancy loss risk gene, and recognized its critical function in DNA damage repair pathways. 31609975
2019-11-02 11:00:00 This study was designed to identify mutations of gene NLRP7 and KHDC3L in biparental complete moles. 31220306
2019-06-15 11:01:00 all products of conception from patients with at least two hydatidiform moles and recessive mutations in NLRP7 or KHDC3L are diploid biparental, while those from patients without mutations are highly heterogeneous and only a minority of them are diploid biparental 29463882
2018-06-02 10:30:00 study indicates that ECAT1 may play a role in meiotic progression by maintaining the accuracy of spindle assembly in human oocytes, thus promoting oocyte maturation and subsequent development of the embryo. 27917907
2016-04-09 11:06:00 No disease-causing mutations were identified in NLRP2, NLRP7 and KHDC3L in cohorts of unexplained infertility and recurrent pregnancy loss. 25376457

名称对应

Type IDs
Synonymous C6orf221, ECAT1, HYDM2
Gene
UniProtKB-ID: KHD3L_HUMAN
UniprotKB: Q587J8
UniParc: UPI00001D8131
EMBL: AB211062, BC137160, BC132844
Ensembl: ENSG00000203908
KO: hsa:154288
Nucleutide sequences
EMBL-CDS: AAI32845.1, AAI37161.1, BAD95489.1
Ensembl_TRS: ENST00000370367
Protein sequencees
Ensembl_PRO: ENSP00000359392
RefSeq: NP_001017361.1
Others
UniRef100: UniRef100_Q587J8
UniRef90: UniRef90_Q587J8
UniRef50: UniRef50_Q587J8
UniGene: Hs.128326
CCDS: CCDS34484.1

全选

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研究热度

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