RIMKLB

Chr 12

ribosomal modification protein rimK like family member B

Also known as: FAM80B, NAAGS, NAAGS-I

NCBI Gene: 57494 ENSG00000166532 UniProt: Q9ULI2 OMIM: 614054

The protein catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate in the cytoplasm. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia, typically presenting in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable N-acetyl-L-aspartate-L-glutamate ligase activity and citrate-L-glutamate ligase activity. Predicted to be involved in L-amino acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism