PMPCA
Function
Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the peptidase M16 family.
Tissue Specificity
Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis.
Cellular localization
- Mitochondrion matrix
- Mitochondrion inner membrane
Alternative names
INPP5E, KIAA0123, MPPA, PMPCA, Mitochondrial-processing peptidase subunit alpha, Alpha-MPP, Inactive zinc metalloprotease alpha, P-55