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FLASH GENE

Symbol

PMPCA

contributors: mct - updated : 14-10-2016

HGNC name	peptidase (mitochondrial processing) alpha
HGNC id	18667

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015160 13 - 2182 NP_055975 - 525 - 1997 9299349 NM_001282946 13 - 2180 NP_001269875 - 425 - 1997 9299349 NM_001282944 12 - 2087 NP_001269873 - 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