Paired-Like Homeodomain Transcription Factor 3

Alternative Names

  • PITX3
  • Pituitary Homeobox 3
  • PTX3
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OMIM Number

602669

NCBI Gene ID

5309

Uniprot ID

O75364

Length

11,289 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Pituitary homeobox 3

Molecular Mass

31832 Da

Amino Acid Count

302

Genomic Location

chr10:102,230,186-102,241,474

Gene Map Locus
10q24.32

Description

PITX3 is a member of the RIEG/PITX homeobox gene family and codes for the paired-like homeodomain transcription factor 3. PITX3 plays a major role in lens formation and  ocular development. It also plays an important role in the differentiation and maintenance of meso-diencephalic dopaminergic  neurons during development.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005029.3:c.640_656delSaudi ArabiaNC_000010.11:g.102230778_102230794delUncertain SignificancePathogenicAnterior Segment Dysgenesis 1NG_008147.1:g.15692_15708del; NM_005029.3:c.640_656del17; NP_005020.1:p.Ala214ArgfsTer421411557416468252
NM_005029.3:c.650delGLebanonChr10:102230775PathogenicPathogenicCataract 11, Multiple TypesNG_008147.1:g.15702delG ; NM_005029.3:c.650delG15649912566939
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