PABPC1 Chromosome 8
Poly(A) binding protein cytoplasmic 1
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What This Gene Does
This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"RNA binding motif containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q22.3
Ensembl
ENSG00000070756
Associated Conditions (1)
Pulmonary artery atresia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS80006036 | Health Risk | Pathogenic | Pulmonary artery atresia, Pulmonary artery atresia |