Function
Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins.
Biological Context
Subcellular Location: Mitochondrion matrix; Mitochondrion inner membrane
Tissue Specificity: Ubiquitously expressed with highest expression in fetal tissues and adult brain, cerebellum and cerebellar vermis
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Mitochondrial-processing peptidase subunit alpha (PMPCA) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 34-525aa, with N-terminal 6xHis-tagged tag, molecular weight 60.6kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Protease proteins →
