ACBD6

Chr 1AR

acyl-CoA binding domain containing 6

Also known as: NEDPM

NCBI Gene: 84320 ENSG00000230124 UniProt: Q9BR61 OMIM: 616352

The ACBD6 protein binds long-chain acyl-coenzyme A molecules, particularly unsaturated fatty acyl-CoAs, and participates in protein N-myristoylation. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with progressive movement abnormalities. The gene shows relatively low constraint against loss-of-function variants (pLI 0.000002, LOEUF 1.129).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables fatty-acyl-CoA binding activity. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with progressive movement abnormalitiesMIM #620785

Clinical highlights

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

LOF

Mechanism· G2P