HOXA1 Chromosome 7

Homeobox A1
6 variants 6 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000105991
Associated Conditions (3)
Inborn genetic diseases
Human HOXA1 syndromes
Bosley-Salih-Alorainy syndrome
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS34462126 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769512832 Health Risk Likely pathogenic Human HOXA1 syndromes, Human HOXA1 syndromes
RS104894017 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Bosley-Salih-Alorainy syndrome
RS104894018 Health Risk Pathogenic Human HOXA1 syndromes, Human HOXA1 syndromes
RS1562700083 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Bosley-Salih-Alorainy syndrome
RS769152039 Health Risk Pathogenic Bosley-Salih-Alorainy syndrome, Human HOXA1 syndromes, Bosley-Salih-Alorainy syndrome
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