DCAF12L2 Chromosome X

DDB1 and CUL4 associated factor 12 like 2
2 variants 2 Health Risk

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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 multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000198354
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS199690770 Health Risk Conflicting classifications of pathogenicity
RS200667384 Health Risk Conflicting classifications of pathogenicity
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