KHDRBS1 Chromosome 1

KH RNA binding domain containing, signal transduction associated 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Gene Info

Gene Group

Signal transduction and activation of RNA metabolism family

Locus Type

gene with protein product

Location

1p35.2

Ensembl

ENSG00000121774

Associated Conditions (1)

Premature ovarian failure

Key Variants

RS750291697

Likely pathogenic

Premature ovarian failure, Premature ovarian failure

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS750291697	Health Risk	Likely pathogenic	Premature ovarian failure, Premature ovarian failure