ACBD6

Chr 1

acyl-CoA binding domain containing 6

Also known as: NEDPM

NCBI Gene: 84320 ENSG00000230124 UniProt: Q9BR61

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).

ResearchSummary from RefSeq, OMIM, UniProt

Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 1.13

Clinical Summary— ACBD6

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

15 unique Pathogenic / Likely Pathogenic· 127 VUS of 229 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.13LOEUF

pLI 0.000

Z-score 1.18

OE 0.68 (0.43–1.13)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.11Z-score

OE missense 0.98 (0.85–1.12)

144 obs / 147.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.68 (0.43–1.13)

0≤0.351.4

Missense OE?0.98 (0.85–1.12)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 11 / 16.1Missense obs/exp: 144 / 147.7Syn Z: -0.44

ClinVar Variant Classifications

229 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11

Likely Pathogenic4

VUS127

Likely Benign37

Benign11

Conflicting4

Pathogenic

Likely Pathogenic

127

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	8	3	0	0	11
Likely Pathogenic	4	0	0	0	4
VUS	3	110	13	1	127
Likely Benign	0	7	7	23	37
Benign	0	1	9	1	11
Conflicting	—				4
Total	15	121	29	25	194

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

28 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap ACBD6 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →