Calmodulin 3

Alternative Names

  • CALM3
  • PHKD3

Associated Diseases

Long QT Syndrome 16
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OMIM Number

114183

NCBI Gene ID

808

Uniprot ID

P0DP25

Length

9,709 bases

No. of Exons

9

Protein Name

Calmodulin-3

Molecular Mass

16838 Da

Amino Acid Count

149

Genomic Location

chr19:46,601,074-46,610,782

Gene Map Locus
19q13.32

Description

This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005184.4:c.421G>ASaudi ArabiaNC_000019.10:g.46608981G>APathogenicPathogenicLong QT Syndrome 16NG_051331.1:g.12908G>A; NM_005184.4:c.421G>A; NP_005175.2:p.Glu141Lys1599759598812678
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