IRX5

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IRX5
Identifiers
AliasesIRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDsOMIM: 606195 GeneCards: IRX5
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252197
NM_005853

n/a

RefSeq (protein)

NP_001239126
NP_005844

n/a

Location (UCSC)Chr 16: 54.93 – 54.93 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Iroquois-class homeodomain protein IRX-5, also known as Iroquois homeobox protein 5, is a protein that in humans is encoded by the IRX5 gene.[3][4]

Function

IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[3] First described in a 2012 study by Reversade and colleagues, the loss of IRX5 in humans causes Hamamy Syndrome, a recessive developmental disorder mainly affecting the heart, long bones, and craniofacial structures. [5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176842 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "Entrez Gene: iroquois homeobox 1".
  4. ^ Ogura K, Matsumoto K, Kuroiwa A, Isobe T, Otoguro T, Jurecic V, et al. (2001). "Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenetics and Cell Genetics. 92 (3–4): 320–5. doi:10.1159/000056921. PMID 11435706. S2CID 46509502.
  5. ^ Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, et al. (May 2012). "Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1". Nature Genetics. 44 (6): 709–13. doi:10.1038/ng.2259. PMID 22581230. S2CID 5535474.

Further reading

External links

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