HOXC13 Chromosome 12
Homeobox C13
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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, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000123364
Associated Conditions (2)
Ectodermal dysplasia 9
hair/nail type
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136358078 | Health Risk | Pathogenic | — |
| RS398122377 | Health Risk | Pathogenic | Ectodermal dysplasia 9, hair/nail type, Ectodermal dysplasia 9 |
| RS398122913 | Health Risk | Pathogenic | Ectodermal dysplasia 9, hair/nail type, Ectodermal dysplasia 9 |
| RS775869095 | Health Risk | Pathogenic | — |