The TCAP gene homepage
| General information |
| Gene symbol |
TCAP |
| Gene name |
titin-cap |
| Chromosome |
17 |
| Chromosomal band |
q12 |
| Imprinted |
- |
| Genomic reference |
NG_008892.1 |
| Transcript reference |
NM_003673.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
15 |
| Unique public DNA variants reported |
14 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as： TELE; CMD1N; T-cap; LGMD2G; telethonin |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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