AlphaFold predicted structure
CRLS1 · Q9UJA2
Mean pLDDT
69.0/ 100
Low
301 residues
Confidence breakdown
- Very high(≥ 90)35%
- Confident(70–90)21%
- Low(50–70)12%
- Very low(< 50)33%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CRLS1
Chr 20p12.3cardiolipin synthase 1
- Aliases:
- dJ967N21.6, CLS1, GCD10
- MANE:
- ENST00000378863.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
combined oxidative phosphorylation deficiency 57
0.65stroke disorder
0.24alcohol drinking
0.24mitochondrial disease
0.19inborn mitochondrial metabolism disorder
0.19colorectal cancer
0.06colonic neoplasm
0.06hypertensive disorder
0.05osteoarthritis, hip
0.05colon carcinoma
0.05
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cardiolipin synthase (CMP-forming)
Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG) (PubMed:16547353, PubMed:16678169, PubMed:16716149, PubMed:35147173). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions (PubMed:35147173)