VCX3B Chromosome X

Variable charge X-linked 3B
5 variants 5 Health Risk

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What This Gene Does
This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Variable charge X/Y family
Locus Type
gene with protein product
Location
Xp22.31
Ensembl
ENSG00000205642
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS1339256775 Health Risk Conflicting classifications of pathogenicity
RS201156439 Health Risk Conflicting classifications of pathogenicity
RS372770045 Health Risk Conflicting classifications of pathogenicity
RS759569482 Health Risk Conflicting classifications of pathogenicity
RS775484942 Health Risk Conflicting classifications of pathogenicity
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