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Hoxa2

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Hoxa2

Homeobox A2
Identifiers
Symbols  ; HOX1K; MCOHI
External IDs GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.[1]

Function

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.[2]

HOXA2 controls the embryonic development of the lower and middle part of the face and of the middle ear. Mutations in it are known to cause microtia, hearing impairment, and cleft palate.

See also

References

  1. ^ Scott MP (November 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3.  
  2. ^ "Entrez Gene: HOXA2 homeobox A2". 

Further reading

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