CALM1 calmodulin 1

Gene ID: 801, updated on 12-Sep-2024
Gene type: protein coding
Also known as: caM; CAM2; CAM3; CAMB; CAMC; CAMI; PHKD; CPVT4; DD132; LQT14; PHKD1; CALML2; CAMIII

Summary

This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Catecholaminergic polymorphic ventricular tachycardia 4 MedGen: C3554047OMIM: 614916GeneReviews: Catecholaminergic Polymorphic Ventricular Tachycardia	See labs
Long QT syndrome 14 MedGen: C4015671OMIM: 616247GeneReviews: Long QT Syndrome Overview	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-12-12) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-12-12) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 14q32.11

Sequence:: Chromosome: 14; NC_000014.9 (90396502..90408268)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CALM1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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