PITX3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
PITX3
Protein PITX3 PDB 1yz8.png
Identifiers
Aliases PITX3, ASMD, ASOD, CTPP4, CTRCT11, PTX3, paired like homeodomain 3
External IDs MGI: 1100498 HomoloGene: 3689 GeneCards: 5309
RNA expression pattern
PBB GE PITX3 208277 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Human View/Edit Mouse

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.[1][2]

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.[2]

Clinical significance[edit]

Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts.[2]

References[edit]

  1. ^ Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC (Jul 1998). "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD". Nat Genet 19 (2): 167–70. doi:10.1038/527. PMID 9620774. 
  2. ^ a b c "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3". 

Further reading[edit]

External links[edit]

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