CARNMT1 carnosine N-methyltransferase 1
Gene ID: 138199, updated on 2-Nov-2024Gene type: protein coding
Also known as: C9orf41; UPF0586
- See all available tests in GTR for this gene
- Go to complete Gene record for CARNMT1
- Go to Variation Viewer for CARNMT1 variants
Summary
The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Genomic context
- Location:
- 9q21.13
- Sequence:
- Chromosome: 9; NC_000009.12 (74980790..75028430, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CARNMT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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