PITX3

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Paired-like homeodomain 3
Protein PITX3 PDB 1yz8.png
PDB rendering based on 1yz8.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PITX3 ; ASMD; CTPP4; CTRCT11; PTX3
External IDs OMIM602669 MGI1100498 HomoloGene3689 GeneCards: PITX3 Gene
RNA expression pattern
PBB GE PITX3 208277 at tn.png
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 NP_032878
Location (UCSC) Chr 10:
103.99 – 104 Mb
Chr 19:
46.14 – 46.15 Mb
PubMed search [1] [2]

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.