Phospholipase C, Phosphatidylinositol-Specific, X Domain-Containing Protein 3

Alternative Names

  • PLCXD3
  • PIPLC X Domain-Containing Protein 3
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OMIM Number

617016

NCBI Gene ID

345557

Uniprot ID

Q63HM9

Length

203,650 bases

No. of Exons

6

No. of isoforms

1

Protein Name

PI-PLC X domain-containing protein 3

Molecular Mass

36313 Da

Amino Acid Count

321

Genomic Location

chr5:41,306,951-41,510,600

Gene Map Locus
5p13.1

Description

Phosphatidylinositol (PI)-specific phospholipase C (PLC) enzymes  are receptor-regulated phosphodiesterases that control many cellular processes by regulating cytosolic calcium and/or the activity of protein kinases. PLCXD3 belongs to a subfamily of PIPLCs that contains only the catalytic X domain. [From OMIM]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001005473.2:c.104-34166G>CUnited Arab EmiratesNC_000005.10:g.41416700C>GAssociationAbdominal Obesity-Metabolic SyndromeNM_001005473.2:c.104-34166G>C; NP_001005473.1:p.?9292806
NM_001005473.2:c.104-45C>AUnited Arab EmiratesNC_000005.10:g.41382579G>TAbdominal Obesity-Metabolic SyndromeNM_001005473.2:c.104-45C>A319013
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