FAM135B

Chr 8

family with sequence similarity 135 member B

Also known as: C8ORFK32

NCBI Gene: 51059 ENSG00000147724 UniProt: Q49AJ0 OMIM: 621534

The FAM135B protein is predicted to be involved in lipid metabolism. Mutations cause autosomal recessive intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.22), indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq

Predicted to be involved in lipid metabolic process. [provided by Alliance of Genome Resources, Jul 2025]

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

0.22

LOEUF· LoF intol.

LOF

Mechanism· predicted