Symbol: Name: ID: |
TNNT1 troponin T type 1 (skeletal, slow) GFS:1759 |
Gene name: | TNNT1 |
Chromosome: | 19q13.4 |
Previous Symbols: | |
Previous Names: | troponin T1, skeletal, slow |
Aliases: | ANM, STNT, TNT, TNTS, FLJ98147, MGC104241 |
Name Aliases: | slow skeletal muscle troponin T, |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1333868 | Rat Genome Database ID: | RGD:621852 |
HGNC ID: | HGNC:11948 | RefSeq IDs: | NM_001126132 |
Entrez Gene ID: | 7138 | Ensembl Gene ID: | ENSG00000105048 |
VEGA IDs: | UniProt ID: | P13805 | |
UCSC ID: | uc002qjc.3 | OMIM ID: | 191041 |
Pubmed: | PMID1505979 | ||
CCDS IDs: | CCDSCCDS12917.1 CCDS CCDS46185.1 |
Troponin T, slow skeletal muscle is a protein that in humans is encoded by the TNNT1 gene. This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Products for TNNT1 gene
Catalog | Product Name | Application | Company |
GFS:E01759 | troponin T type 1 (skeletal, slow); ELISA kit | ELISA | n/a |
GFS:A01759 | troponin T type 1 (skeletal, slow); Anti | ANTIBODIES | n/a |
GFS:P01759 | troponin T type 1 (skeletal, slow); Protien | Protien | n/a |