HOXC13

HOXC13
Identifiers
Aliases	HOXC13, ECTD9, HOX3, HOX3G, homeobox C13
External IDs	OMIM: 142976; MGI: 99560; GeneCards: HOXC13
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.13 Start 53,938,831 bp End 53,946,544 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15 F3|15 57.99 cM Start 102,829,538 bp End 102,837,249 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in hair follicle gonad testicle skin of arm skin of leg skin of abdomen placenta popliteal artery tibial arteries breast Top expressed in lip hair follicle filiform papilla tail of embryo skin of back skin of abdomen genital tubercle blastocyst stroma of bone marrow morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process hair follicle development multicellular organism development nail development regulation of transcription, DNA-templated transcription by RNA polymerase II transcription, DNA-templated anterior/posterior pattern specification tongue morphogenesis positive regulation of transcription by RNA polymerase II anatomical structure morphogenesis Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 3229 15422 Ensembl ENSG00000123364 ENSMUSG00000001655 UniProt P31276 P50207 RefSeq (mRNA) NM_017410 NM_010464 RefSeq (protein) NP_059106 NP_034594 Location (UCSC) Chr 12: 53.94 – 53.95 Mb Chr 15: 102.83 – 102.84 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-C13 is a protein that in humans is encoded by the HOXC13 gene.

Structure

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.

HOXC13 is positioned toward the 5' end of the HOXC cluster.

Function

The product of this gene may play a role in the development of hair, nail, and filiform papilla.

HOX gene expression follows a principle called collinearity: genes at the 3' end are expressed earlier and more anteriorly, while those at the 5' end are expressed in more posterior or distal structures. As a result, the HOXC13 gene is primarily involved in the development and differentiation of ectodermal structures rather than early axial patterning.

Clinical significance

Mutations in HOXC13 can lead to disruptions in the transcription factors the gene is associated with, particularly being linked to Pure hair-nail type ectodermal dysplasia. Research suggests that disruptions in mRNA decay are the root cause of a failure to properly develop hair follicles, nails, sebaceous glands, and other ectodermal structures. These effects are a result of a nonsense mutation in HOXC13 that codes for a protein without a C-terminal homeodomain and undergoes total loss-of-function. The mutation has no effects on any other organ systems and is limited to ectodermal structures.

See also

• Homeobox

References

Further reading

External links

• HOXC13+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by adding missing information.

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