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PITX3

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Identifiers
SymbolsPITX3 ; ASMD; CTPP4; CTRCT11; PTX3
External IDsOMIM602669 MGI1100498 HomoloGene3689 GeneCards: PITX3 Gene
RNA expression pattern
File:PBB GE PITX3 208277 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez530918742
EnsemblENSG00000107859ENSMUSG00000025229
UniProtO75364O35160
RefSeq (mRNA)NM_005029NM_008852
RefSeq (protein)NP_005020NP_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

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

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

References

  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. PMID 9620774. doi:10.1038/527. 
  2. ^ a b c "Entrez Gene: PITX3 paired-like homeodomain transcription factor 3". 

Further reading

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External links

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