| Entrez Gene ID |
54715 (NCBI Gene) |
| Official Gene Symbol |
RBFOX1 (GeneCards) |
| Number of variants in RBFOX1 in this database |
44 (view all the variants) |
| Full name |
RNA binding fox-1 homolog 1 |
| Band |
16p13.3 |
| Other IDs |
Vega:
OTTHUMG00000129551
OMIM:
605104
HGNC:
HGNC:18222
Ensembl:
ENSG00000078328
|
| Other names |
2BP1,
FOX1,
A2BP1,
FOX-1,
HRNBP1
|
| Summary |
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |