PITX3

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PITX3
Protein PITX3 PDB 1yz8.png
Identifiers
Aliases PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3, ASGD1
External IDs MGI: 1100498 HomoloGene: 3689 GeneCards: PITX3
RNA expression pattern
PBB GE PITX3 208277 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005029

NM_008852

RefSeq (protein)

NP_005020

NP_032878

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

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

Function[edit]

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[edit]

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

References[edit]

  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. PMID 9620774. doi:10.1038/527. 
  4. ^ a b c "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. PMID 14973278. doi:10.1242/dev.01022. 

Further reading[edit]

External links[edit]

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