GDAP2 Chromosome 1
Ganglioside induced differentiation associated protein 2
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What This Gene Does
Predicted to act upstream of or within response to retinoic acid. Located in lysosomal membrane. Implicated in autosomal recessive spinocerebellar ataxia 27. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"BCH domain containing |Macro domain containing|CRAL-TRIO lipid binding domain containing"
Locus Type
gene with protein product
Location
1p12
Ensembl
ENSG00000196505
Associated Conditions (3)
Spinocerebellar ataxia
autosomal recessive 27
GDAP2-related disorder
Key Variants
RS141678357
Likely pathogenic
Health Risk
RS1648861791
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia
Health Risk
RS747457022
Likely pathogenic
GDAP2-related disorder, GDAP2-related disorder
Health Risk
RS1557794465
Pathogenic
Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia
Health Risk
RS372395282
Pathogenic
Health Risk
RS547792505
Pathogenic
Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia
Health Risk
RS752352896
Pathogenic
Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141678357 | Health Risk | Likely pathogenic | — |
| RS1648861791 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia |
| RS747457022 | Health Risk | Likely pathogenic | GDAP2-related disorder, GDAP2-related disorder |
| RS1557794465 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia |
| RS372395282 | Health Risk | Pathogenic | — |
| RS547792505 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia |
| RS752352896 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 27, Spinocerebellar ataxia |