ACBD6
Chr 1ARacyl-CoA binding domain containing 6
Also known as: NEDPM
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).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACBD6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools