GABPA
Description
The GABPA (GA binding protein transcription factor subunit alpha) is a protein-coding gene located on chromosome 21.
GA-binding protein alpha chain is a protein that in humans is encoded by the GABPA gene. This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome c oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down syndrome phenotype. GABPA has been shown to interact with Host cell factor C1, Sp1 transcription factor and Sp3 transcription factor.
Transcription factor capable of interacting with purine-rich repeats (GA repeats). Positively regulates the transcription of the transcriptional repressor RHIT/ZNF205 (PubMed:22306510).
GABPA is also known as E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A, RCH04A07.
Associated Diseases
- breast cancer
- nonpapillary renal cell carcinoma
- Crigler-Najjar syndrome type 2
- pachyonychia congenita
- syndactyly type 4
- maple syrup urine disease
- sarcosinemia
- schizophrenia
- synpolydactyly type 1
- polydactyly of a triphalangeal thumb
- polydactyly, postaxial, type A1
- symphalangism with multiple anomalies of hands and feet
- brachydactyly type A2
- brachydactyly type A7
- syndactyly type 5
- mesoaxial synostotic syndactyly with phalangeal reduction
