KHDC3L

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

Description

KH domain containing 3 like, subcortical maternal complex member

Tissue specificity

Tissue enhanced (testis)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

6 (73362658 - 73364171)

Ensembl ID

ENSG00000203908  (ver. 103.38)

Orthologs

-

UniProt

Q587J8

neXtProt

NX_Q587J8

Human splice variants

Protein structure