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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CRLS1
cardiolipin synthase 1
Chromosome 20 Β· 20p12.3
NCBI Gene: 54675Ensembl: ENSG00000088766.13HGNC: HGNC:16148UniProt: Q9UJA2
29PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cardiolipin biosynthetic processcardiolipin synthase (CMP-forming) activitymitochondrionmitochondrial inner membranecombined oxidative phosphorylation deficiency 57chronic lymphocytic leukemianeoplasmcolorectal cancer
✦AI Summary

CRLS1 (cardiolipin synthase 1) catalyzes cardiolipin synthesis by transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol, a critical reaction localized to mitochondrial membranes 1. Cardiolipin is essential for maintaining mitochondrial structural integrity and functional dynamics under both optimal and stress conditions 1. CRLS1 dysfunction has significant disease implications. Biallelic CRLS1 variants cause autosomal recessive mitochondrial disease presenting as progressive encephalopathy, with additional features including bull's eye maculopathy, auditory neuropathy, cardiac defects, and diabetes insipidus 1. Patient-derived fibroblasts showed impaired mitochondrial morphology, biogenesis, and reduced cardiolipin levels with elevated phosphatidylglycerol accumulation 1. CRLS1 expression correlates with disease protection in multiple contexts. High CRLS1 expression associates with improved overall survival in non-small cell lung cancer patients 2. CRLS1 downregulation promotes nonalcoholic fatty liver disease (NASH) through activating transcription factor 3 (ATF3), while CRLS1 overexpression attenuates hepatic steatosis and inflammation 3. Therapeutically, promoting cardiolipin synthesis via CRLS1 upregulation offers promise for Parkinson's disease prevention by enhancing mitochondrial homeostasis and dopaminergic neuron survival 4, and for diabetic nephropathy treatment through the UCP1/ARX/CRLS1 axis 5.

Sources cited
1
CRLS1 catalyzes cardiolipin synthesis and is essential for mitochondrial integrity; biallelic variants cause autosomal recessive mitochondrial encephalopathy with multi-systemic involvement
PMID: 35147173
2
High CRLS1 expression associates with improved overall survival in non-small cell lung cancer patients and co-expresses with metabolism-related genes
PMID: 29434989
3
CRLS1 ameliorates NASH by suppressing ATF3 expression and activity, reducing hepatic steatosis and inflammation
PMID: 32096565
4
Upregulating CRLS1 via GRB2/TRKA/EVI1 signaling restores cardiolipin homeostasis and improves Parkinson's disease phenotypes in mouse models
PMID: 39159293
5
UCP1 upregulates CRLS1 through the ARX pathway to promote cardiolipin biosynthesis and alleviate diabetic nephropathy
PMID: 41275961
Disease Associationsβ“˜21
combined oxidative phosphorylation deficiency 57Open Targets
0.65Moderate
chronic lymphocytic leukemiaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.04Suggestive
ulcer diseaseOpen Targets
0.04Suggestive
open-angle glaucomaOpen Targets
0.04Suggestive
colonic neoplasmOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
glaucomaOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
polyp of colonOpen Targets
0.04Suggestive
male reproductive system diseaseOpen Targets
0.03Suggestive
colon carcinomaOpen Targets
0.03Suggestive
cystOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
benign colon neoplasmOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
malignant colon neoplasmOpen Targets
0.03Suggestive
rectal neoplasmOpen Targets
0.03Suggestive
Combined oxidative phosphorylation deficiency 57UniProt
Pathogenic Variants3
NM_019095.6(CRLS1):c.326T>A (p.Ile109Asn)Pathogenic
Combined oxidative phosphorylation deficiency 57
β˜†β˜†β˜†β˜†2023β†’ Residue 109
NM_019095.6(CRLS1):c.515C>A (p.Ala172Asp)Pathogenic
Combined oxidative phosphorylation deficiency 57
β˜†β˜†β˜†β˜†2023β†’ Residue 172
NM_019095.6(CRLS1):c.649C>T (p.Leu217Phe)Pathogenic
Combined oxidative phosphorylation deficiency 57
β˜†β˜†β˜†β˜†2023β†’ Residue 217
View on ClinVar β†—
Related Genes
PIK3C3Protein interaction99%TAFAZZINProtein interaction97%CDS1Protein interaction95%PI4KBProtein interaction95%PSPHProtein interaction95%CDS2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
81%
Lung
42%
Bone Marrow
30%
Ovary
24%
Brain
22%
Gene Interaction Network
Click a node to explore
CRLS1PIK3C3TAFAZZINCDS1PI4KBPSPHCDS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UJA2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.42 [0.87–1.91]
RankingsWhere CRLS1 stands among ~20K protein-coding genes
  • #12,129of 20,598
    Most Researched29
  • #4,122of 5,498
    Most Pathogenic Variants3
  • #17,345of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedCRLS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ginsenoside Rg3 Restores Mitochondrial Cardiolipin Homeostasis via GRB2 to Prevent Parkinson's Disease.
PMID: 39159293
Adv Sci (Weinh) Β· 2024
1.00
2
N
PMID: 34728628
Nat Commun Β· 2021
0.90
3
ANXA1 improves mitochondrial homeostasis through uncoupling protein 1 in diabetic nephropathy.
PMID: 41275961
J Adv Res Β· 2025
0.80
4
Cardiolipin Synthase 1 Ameliorates NASH Through Activating Transcription Factor 3 Transcriptional Inactivation.
PMID: 32096565
Hepatology Β· 2020
0.70
5
Expression and potential mechanism of metabolism-related genes and CRLS1 in non-small cell lung cancer.
PMID: 29434989
Oncol Lett Β· 2018
0.60