Phospholipase C, Beta-3

Alternative Names

PLCB3

Length

17,923 bases

No. of Exons

No. of isoforms

Protein Name

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3

Molecular Mass

138799 Da

Amino Acid Count

1234

Genomic Location

chr11:64,251,529-64,269,451

Gene Map Locus

11q13.1

Description

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[From RefSeq]

Epidemiology in the Arab World

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United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000932.4:c.2632G>T	United Arab Emirates	NC_000011.10:g.64264092G>T	Pathogenic	Likely Pathogenic	Spondylometaphyseal Dysplasia With Corneal Dystrophy	NM_000932.4:c.2632G>T; NP_001303243.1:p.Ala878Ser	760695903	1686865

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=plcb3

Contributors

Asha Deepthi: 02.05.2021

Edit History

Asha Deepthi: 02.05.2021

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