PABPC5

Chr X

poly(A) binding protein cytoplasmic 5

Also known as: PABP5

NCBI Gene: 140886 ENSG00000174740 UniProt: Q96DU9

The protein binds to the poly(A) tail of mRNA and regulates cytoplasmic mRNA metabolism. Mutations cause X-linked intellectual disability with seizures and behavioral abnormalities, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants and follows X-linked inheritance.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.41

LOEUF

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Mechanism

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