TCAP titin-cap

Gene ID: 8557, updated on 2-Nov-2024
Gene type: protein coding
Also known as: TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin

Summary

Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2G MedGen: C1866008OMIM: 601954GeneReviews: Not available	See labs
Hypertrophic cardiomyopathy 25 MedGen: C4225408OMIM: 607487GeneReviews: Dilated Cardiomyopathy Overview	See labs
Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview	See labs
Primary familial hypertrophic cardiomyopathy MedGen: C0949658GeneReviews: Hypertrophic Cardiomyopathy Overview	See labs

Genomic context

Location:: 17q12

Sequence:: Chromosome: 17; NC_000017.11 (39665349..39666554)

Total number of exons:: 2

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 TCAP 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
TCAP homepage - Leiden Muscular Dystrophy pages
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.