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FLASH GENE

Symbol

MPV17

contributors: mct/npt - updated : 18-06-2010

HGNC name	MpV17 mitochondrial inner membrane protein
HGNC id	7224

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002437 8 - 1051 NP_002428 - 176 - Navarro-Sastre (2008)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas           thyroid       highly Nervous brain         Reproductive female system breast mammary gland   highly   female system ovary     highly Respiratory lung         Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine glomerulosclerosis gene Mpv17
	ortholog to yeast Sym1

Homologene

FAMILY	peroxisomal membrane protein PXMP2/4 family
	MPV17 subfamily

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome
text	located in the inner mitochondrial membrane (Dallabona 2010)

basic FUNCTION	may be implicated in the metabolism of reactive oxygen species
	playing a role in controlling MtDNA maintenance and OXPHOS activity
	essential to maintain OXPHOS, glycogen storage, mitochondrial morphology and mtDNA stability in stressing conditions such as high temperature and ethanol-dependent growth (Dallabona 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MDDS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     leads to impairment of mitochondrial bioenergetic functions and morphological features during stress conditions (Dallabona 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS