IRX3
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| Iroquois homeobox 3 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | IRX3 ; IRX-1; IRXB1 | ||||||||||||
| External IDs | OMIM: 612985 MGI: 1197522 HomoloGene: 7385 GeneCards: IRX3 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 79191 | 16373 | |||||||||||
| Ensembl | ENSG00000177508 | ENSMUSG00000031734 | |||||||||||
| UniProt | P78415 | P81067 | |||||||||||
| RefSeq (mRNA) | NM_024336 | NM_001253822 | |||||||||||
| RefSeq (protein) | NP_077312 | NP_001240751 | |||||||||||
| Location (UCSC) | Chr 16: 54.28 – 54.29 Mb |
Chr 8: 91.8 – 91.8 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Iroquois-class homeodomain protein IRX-3, also known as Iroquois homeobox protein 3, is a protein that in humans is encoded by the IRX3 gene.[1]
Contents
Function
IRX3 is a member of the Iroquois homeobox gene family and plays a role in an early step of neural development.[2] Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[1][3] Specifically, IRX3 contributes to pattern formation in the spinal cord where it tranlates a morphogen gradient into transcriptional events, and is directly regulated by NKX2-2.[4]
Clinical significance
Association with obesity
Obesity-associated noncoding sequences within FTO interact with the promoter of IRX3 and FTO in human, mouse, and zebrafish. Obesity-associated single nucleotide polymorphisms are related to the expression of IRX3 (not FTO) in the human brain. A direct connection between the expression of IRX3 and body mass and composition was shown through the decrease in body weight of 25-30% in IRX3-deficient mice. This suggests that IRX3 influences obesity.[5] Manipulation of IRX3 and IRX5 pathways has also been shown to decrease obesity markers in human cell cultures.[6] Genetic variants of FTO and IRX3 genes are in high linkage disequilibrium and are associated with obesity risk.[7]
References
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it. |
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