ACBD6 Chromosome 1
Acyl-CoA binding domain containing 6
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What This Gene Does
Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ankyrin repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1q25.2-q25.3
Ensembl
ENSG00000230124
Associated Conditions (2)
Intellectual disability
Neurodevelopmental disorder with progressive movement abnormalities
Key Variants
RS1412804743
Pathogenic
Intellectual disability, Neurodevelopmental disorder with progressive movement abnormalities, Intellectual disability
Health Risk
RS1647942239
Pathogenic
Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
Health Risk
RS2525656325
Pathogenic
Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
Health Risk
RS2528780273
Pathogenic
Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
Health Risk
RS757566117
Pathogenic
Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1412804743 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental disorder with progressive movement abnormalities, Intellectual disability |
| RS1647942239 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities |
| RS2525656325 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities |
| RS2528780273 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities |
| RS757566117 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities |