full name
titin-cap

synonyms
CMD1N, LGMD2G, T-cap, TELE, telethonin, TCAP, ENSG00000173991

HGNC
HGNC:11610

Entrez Gene
Gene:8557

ENSEMBL
ENSG00000173991

location
chr: 17
start: 37821599
stop: 37822807
strand: +

OMIM
OMIM:604488: TCAP (Autosomal dominant inheritance)
OMIM:607487: Cardiomyopathy, hypertrophic, 25
OMIM:601954: Muscular dystrophy, limb-girdle, autosomal recessive 7

transcripts
NM_003673.3

pathways
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]