IRX5

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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.[5][6]

AliasesIRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
End54,934,485 bp[1]
Quick facts Identifiers, Aliases ...
IRX5
Identifiers
AliasesIRX5, HMMS, IRX-2a, IRXB2, iroquois homeobox 5
External IDsOMIM: 606195; MGI: 1859086; GeneCards: IRX5; OMA:IRX5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001252197
NM_005853

NM_018826

RefSeq (protein)

NP_001239126
NP_005844

NP_061296

Location (UCSC)Chr 16: 54.93 – 54.93 MbChr 8: 93.08 – 93.1 Mb
PubMed search[3][4]
Wikidata
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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.[5] 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.[7]

References

Further reading

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