PITX3

Protein-coding gene From Wikipedia, the free encyclopedia

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.[4][5]

AliasesPITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
Chr.Chromosome 19 (mouse)[1]
End46,136,765 bp[1]
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PITX3
Identifiers
AliasesPITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
External IDsOMIM: 602669; MGI: 1100498; HomoloGene: 3689; GeneCards: PITX3; OMA:PITX3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005029

NM_008852

RefSeq (protein)

NP_005020

NP_032878

Location (UCSC)n/aChr 19: 46.12 – 46.14 Mb
PubMed search[2][3]
Wikidata
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Function

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development,[5] and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.[6]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[5]

References

Further reading

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