HOXB1 Chromosome 17
Homeobox B1
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What This Gene Does
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000120094
Associated Conditions (3)
Facial paresis
hereditary congenital
3
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1247386618 | Health Risk | Pathogenic | Facial paresis, hereditary congenital, 3 |
| RS1555632121 | Health Risk | Pathogenic | Facial paresis, hereditary congenital, 3 |
| RS387907239 | Health Risk | Pathogenic | Facial paresis, hereditary congenital, 3 |