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Pitx3

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Pitx3

Paired-like homeodomain 3
PDB rendering based on 1yz8.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; ASMD; ASOD; CTPP4; CTRCT11; PTX3
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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. ^
  2. ^ a b c

Further reading

External links

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

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