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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23203
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Peptidase, mitochondrial processing subunit alpha |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PMPCA |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2 |
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Chromosome
Chromosome number
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9 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q34.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 th |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Inflammatory Bowel Disease |
Inflammatory bowel disease (MTAG) |
N/A |
N/A |
GWAS |
| Mitochondrial Diseases |
mitochondrial disease |
N/A |
N/A |
GenCC |
|
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Associations from Text Mining
Disease associations identified through Pubtator
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| Disease Name |
Relationship Type |
References |
| Ataxia |
Associate
|
36233161 |
| Cerebellar Ataxia |
Associate
|
25808372 |
| Cerebellar Diseases |
Associate
|
36233161 |
| COVID 19 |
Associate
|
37643521 |
| Epileptic Encephalopathy Early Infantile 3 |
Associate
|
35803560 |
| Friedreich Ataxia |
Associate
|
25808372 |
| Leukodystrophy Metachromatic |
Associate
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35803560 |
| Leukoencephalopathies |
Associate
|
35803560 |
| Malformations of Cortical Development |
Associate
|
36233161 |
| Mitochondrial Diseases |
Associate
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35885985 |
| Optic Atrophy Autosomal Dominant |
Associate
|
35885985 |
| Spinocerebellar Ataxia Autosomal Recessive 2 |
Associate
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35885985 |
| Spinocerebellar Ataxia Autosomal Recessive 9 |
Associate
|
35885985 |
| Syndrome |
Associate
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35803560 |
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