AGK

Chr 7

acylglycerol kinase

Also known as: CATC5, CTRCT38, MTDPS10, MULK

NCBI Gene: 55750ENSG00000006530UniProt: Q53H12

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial DNA depletion syndrome 10
UniProtCataract 38

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — AGK
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.08
OE 0.59 (0.41–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.76Z-score
OE missense 0.86 (0.76–0.97)
196 obs / 228.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.41–0.88)
0≤0.351.4
Missense OE?0.86 (0.76–0.97)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 18 / 30.4Missense obs/exp: 196 / 228.1Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AGK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients