TNNT1 troponin T1, slow skeletal type
Gene ID: 7138, updated on 3-Nov-2024Gene type: protein coding
Also known as: ANM; TNT; NEM5; STNT; TNTS
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- Go to complete Gene record for TNNT1
- Go to Variation Viewer for TNNT1 variants
Summary
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, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nemaline myopathy 5 | not available |
| Nemaline myopathy 5B, autosomal recessive, childhood-onset | not available |
| Nemaline myopathy 5C, autosomal dominant | not available |
Genomic context
- Location:
- 19q13.42
- Sequence:
- Chromosome: 19; NC_000019.10 (55132698..55149206, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNNT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TNNT1 homepage - Leiden Muscular Dystrophy pages
- Variation ViewerRelated Variants
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