QuickView for tele (gene)

Gene Symbol:

TCAP Homo sapiens

Full name:

titin-cap

Synonyms:

CMD1N, CMH25, LGMD2G, T-cap, TELE, telethonin, telethonin, 19 kDa sarcomeric protein, limb girdle muscular dystrophy 2G (autosomal recessive), teneurin C-terminal associated peptide, titin cap protein

Genomic Location:

Chr 17: 35075125-35076333

Description:

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 dom...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

S8_01 ,  CTTTGT_LEF1_Q2

Cytogenetic Map:

17q12

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