DCAF12L1 Chromosome X

DDB1 and CUL4 associated factor 12 like 1

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in DCAF12L1.

What This Gene Does

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

WD repeat domain containing

Locus Type

gene with protein product

Location

Xq25

Ensembl

ENSG00000198889

Associated Conditions (1)

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Key Variants

RS2520646399

Likely pathogenic

Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2520646399	Health Risk	Likely pathogenic	Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation