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

Alternative Names

PLCXD3
PIPLC X Domain-Containing Protein 3

Length

203,650 bases

No. of Exons

No. of isoforms

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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United Arab Emirates

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Variant Name	Country	Genomic Location	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP
NM_001005473.2:c.104-34166G>C	United Arab Emirates	NC_000005.10:g.41416700C>G	Association	Abdominal Obesity-Metabolic Syndrome	NM_001005473.2:c.104-34166G>C; NP_001005473.1:p.?	9292806
NM_001005473.2:c.104-45C>A	United Arab Emirates	NC_000005.10:g.41382579G>T	Association	Abdominal Obesity-Metabolic Syndrome	NM_001005473.2:c.104-45C>A; NP_001005473.1:p.?	319013

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=plcxd3

Contributors

Pratibha Nair: 08.04.2021

Edit History

Pratibha Nair: 08.04.2021

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