PMPCA gene

peptidase, mitochondrial processing alpha subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins (PubMed:25808372). Most MPP cleavage sites follow an arginine at position -2 (By similarity).

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 2

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2): A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. [MIM:213200]

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3

Molecular Location: base pairs 136,410,573 to 136,423,761 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3
  • Alpha-MPP
  • CLA1
  • CPD3
  • INPP5E
  • P-55
  • SCAR2