PITX3

PITX3
Identifiers
Aliases PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3
External IDs MGI: 1100498 HomoloGene: 3689 GeneCards: PITX3
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

5309

18742

Ensembl

ENSG00000107859

ENSMUSG00000025229

UniProt

O75364

O35160

RefSeq (mRNA)

NM_005029

NM_008852

RefSeq (protein)

NP_005020.1

NP_032878.1

Location (UCSC) Chr 10: 102.23 – 102.24 Mb Chr 19: 46.14 – 46.15 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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

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,[4] and the specification and terminal differentiation of mesencephalic dopamine neurons in the substantia nigra compacta that are lost in Parkinson's disease.[5]

Clinical significance

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC (June 1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nature Genetics. 19 (2): 167–70. doi:10.1038/527. PMID 9620774.
  4. 1 2 3 "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3".
  5. Smidt MP, Smits SM, Bouwmeester H, Hamers FP, van der Linden AJ, Hellemons AJ, Graw J, Burbach JP (March 2004). "Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3". Development. 131 (5): 1145–55. doi:10.1242/dev.01022. PMID 14973278.

Further reading

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

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