Cat. No.: GENE0713

GABPA

Description GA Binding Protein Transcription Factor Subunit Alpha
Category Protein Coding
GIFtS 40
GC id GC21P025734
Score 9.35
Entrez Gene Summary 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 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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
GeneCards Summary GABPA (GA Binding Protein Transcription Factor Subunit Alpha) is a Protein Coding gene. Diseases associated with GABPA include Friedreich Ataxia and Mitochondrial Myopathy. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ETS2.
Gene Database GeneCards: The Human Gene Database
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