Phospholipase C, Beta-3

Alternative Names

  • PLCB3
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OMIM Number

600230

NCBI Gene ID

5331

Uniprot ID

Q01970

Length

17,923 bases

No. of Exons

33

No. of isoforms

2

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

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000932.4:c.2632G>TUnited Arab EmiratesNC_000011.10:g.64264092G>TLikely PathogenicSpondylometaphyseal Dysplasia With Corneal DystrophyNM_000932.4:c.2632G>T; NP_000923.1:p.Ala878Ser760695903
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