PMPCA Chromosome 9
Peptidase, mitochondrial processing subunit alpha
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What This Gene Does
The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
M16 metallopeptidases
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000165688
Associated Conditions (4)
PMPCA-related disorder
Autosomal recessive spinocerebellar ataxia 2
Inborn genetic diseases
13 conditions
Key Variants
RS143813417
Conflicting classifications of pathogenicity
Health Risk
RS146286285
Conflicting classifications of pathogenicity
PMPCA-related disorder, PMPCA-related disorder
Health Risk
RS150776126
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 2, Inborn genetic diseases, PMPCA-related disorder
Health Risk
RS2538848286
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
Health Risk
RS771359205
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
Health Risk
RS963172852
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS534750502
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
Health Risk
RS1057519454
Pathogenic
Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
Health Risk
RS2538835230
Pathogenic
Health Risk
RS2538851344
Pathogenic
Health Risk
RS573267388
Pathogenic
Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
Health Risk
RS753611141
Pathogenic
13 conditions, Autosomal recessive spinocerebellar ataxia 2, 13 conditions
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143813417 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146286285 | Health Risk | Conflicting classifications of pathogenicity | PMPCA-related disorder, PMPCA-related disorder |
| RS150776126 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 2, Inborn genetic diseases, PMPCA-related disorder |
| RS2538848286 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS771359205 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS963172852 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534750502 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS1057519454 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS2538835230 | Health Risk | Pathogenic | — |
| RS2538851344 | Health Risk | Pathogenic | — |
| RS573267388 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS753611141 | Health Risk | Pathogenic | 13 conditions, Autosomal recessive spinocerebellar ataxia 2, 13 conditions |
| RS753895120 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS768643552 | Health Risk | Pathogenic | 13 conditions, 13 conditions |
| RS869025292 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |
| RS869025293 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2 |