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FLASH GENE
Symbol PMPCA contributors: mct - updated : 14-10-2016
HGNC name peptidase (mitochondrial processing) alpha
HGNC id 18667
Corresponding disease
PMPCAD peptidase (mitochondrial processing) alpha deficiency
SCA9 spinocerebellar ataxia 9
Location 9q34.3      Physical location : 139.305.115 - 139.318.212
Synonym symbol(s) KIAA0123, Alpha-MPP
EC.number 3.4.24.64
DNA
TYPE functioning gene
STRUCTURE 13.19 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2182 - 525 - 1997 9299349
13 - 2180 - 425 - 1997 9299349
12 - 2087 - 394 - 1997 9299349
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION extracellular
    intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
intracellular,cytoplasm,organelle,mitochondria,matrix
basic FUNCTION
  • is responsible for the binding of mitochondrial presequences prior their presentation to the catalytic site of MPP1
  • protein likely involved in the processing of mitochondrial proteins
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA9 , PMPCAD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS