CLYBL

Chr 13

citramalyl-CoA lyase

Also known as: CLB

NCBI Gene: 171425 ENSG00000125246 UniProt: Q8N0X4

This mitochondrial enzyme detoxifies vitamin B12-poisoning metabolites by acting as a citramalyl-CoA lyase to convert citramalyl-CoA into acetyl-CoA and pyruvate, and functions as a malyl-CoA thioesterase to detoxify toxic malyl-CoA that interferes with vitamin B12-dependent metabolism. Mutations cause autosomal recessive malonic aciduria with developmental delay, seizures, and metabolic decompensation typically presenting in early childhood. The gene shows relaxed evolutionary constraint, suggesting tolerance to some loss-of-function variation.

ResearchSummary from RefSeq, UniProt

Enables (S)-citramalyl-CoA lyase activity; magnesium ion binding activity; and malate synthase activity. Involved in protein homotrimerization and regulation of cobalamin metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.31

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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