PABPC5
Description
The PABPC5 (poly(A) binding protein cytoplasmic 5) is a protein-coding gene located on chromosome X.
The PABPC5 gene encodes a poly(A)-binding protein that attaches to the polyA tail found at the 3' end of most eukaryotic mRNAs. This protein is believed to play a role in regulating mRNA metabolic processes in the cytoplasm. The PABPC5 gene resides within a gene-poor region of the Xq21.3/Yp11.2 homology block on chromosome X, close to translocation breakpoints associated with premature ovarian failure. This proximity makes PABPC5 a potential candidate gene for this disorder.
PABPC5 binds to the poly(A) tail of mRNA, playing a potential role in regulating mRNA metabolic processes within the cytoplasm. While primarily known for its interaction with poly(A) tails, PABPC5 likely interacts with other cytoplasmic RNA sequences in vivo.
PABPC5 is also known as PABP5.
Associated Diseases
- glycoprotein storage disease
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- dominant beta-thalassemia
- neuronal ceroid lipofuscinosis 1
- combined immunodeficiency due to OX40 deficiency
- erythroleukemia, familial, susceptibility to
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- hereditary neutrophilia
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- beta-thalassemia-X-linked thrombocytopenia syndrome
- colorectal cancer
