CRLS1 cardiolipin synthase 1
Gene ID: 54675, updated on 3-Apr-2024Gene type: protein coding
Also known as: CLS; CLS1; GCD10; COSPD57; C20orf155; dJ967N21.6
- See all available tests in GTR for this gene
- Go to complete Gene record for CRLS1
- Go to Variation Viewer for CRLS1 variants
Summary
This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 57 | not available |
Genomic context
- Location:
- 20p12.3
- Sequence:
- Chromosome: 20; NC_000020.11 (6005938..6040053)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRLS1 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
- Variation ViewerRelated Variants
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