Gene Symbol | HOXA1 |
Entrez Gene ID | 3198 |
Full Name | homeobox A1 |
Synonyms | BSAS,HOX1,HOX1F |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Bosley-Salih-Alorainy syndrome, 601536 (3); Athabaskan brainstem dysgenesis syndrome, 601536 (3) |