MPV17
entrez
4358
canonical
uniprot
P39210
canonical
ensembl
ENSG00000115204
resolver
ensp
ENSP00000233545
resolver
ensp
ENSP00000369383
resolver
ensp
ENSP00000581122
resolver
ensp
ENSP00000601240
resolver
ensp
ENSP00000601245
resolver
enst
ENST00000233545
resolver
enst
ENST00000380044
resolver
enst
ENST00000911063
resolver
enst
ENST00000931181
resolver
enst
ENST00000931186
resolver
genesymbol
MPV17
resolver
hgnc
HGNC:7224
resolver
uniprot
A0A0S2Z3Z9
resolver
uniprot
D6W555
resolver
uniprot
Q53SY2
resolver
uniprot
Q96B08
resolver
uniprot_entry
A0A0S2Z3Z9_HUMAN
resolver
uniprot_entry
MPV17_HUMAN
resolver
uniprot_sec
D6W555
resolver
uniprot_sec
Q53SY2
resolver
uniprot_sec
Q96B08
resolver
amino_acid_sequence
MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPAVQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. {ECO:0000269|PubMed:16582907, ECO:0000269|PubMed:16582910, ECO:0000269|PubMed:16909392, ECO:0000269|PubMed:17694548, ECO:0000269|PubMed:18695062, ECO:0000269|PubMed:19520594, ECO:0000269|PubMed:20074988, ECO:0000269|PubMed:23714749, ECO:0000269|PubMed:23829229, ECO:0000269|PubMed:25129007, ECO:0000269|PubMed:25861990, ECO:0000269|PubMed:26741492, ECO:0000269|PubMed:27536553, ECO:0000269|PubMed:28207748, ECO:0000269|PubMed:29282788, ECO:0000269|PubMed:30833296}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2EE (CMT2EE) [MIM:618400]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. {ECO:0000269|PubMed:22508010, ECO:0000269|PubMed:24190800, ECO:0000269|PubMed:26437932, ECO:0000269|PubMed:30298599}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (PubMed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (PubMed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation (By similarity). {ECO:0000250|UniProtKB:P19258, ECO:0000269|PubMed:25861990, ECO:0000269|PubMed:26760297}.
uniprot
proteins
mass_dalton
19733
uniprot
proteins
mutagenesis
MUTAGEN 80; /note="T->A: Does not affect gating properties of the channel."; /evidence="ECO:0000269|PubMed:25861990"; MUTAGEN 92; /note="D->K: Affects ion selectivity of the channel."; /evidence="ECO:0000269|PubMed:25861990"; MUTAGEN 99; /note="C->A: Does not affect conductance and gating properties of the channel."; /evidence="ECO:0000269|PubMed:25861990
uniprot
proteins
protein_family
Peroxisomal membrane protein PXMP2/4 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16582907
uniprot
proteins
pubmed
16582910
uniprot
proteins
pubmed
16909392
uniprot
proteins
pubmed
17694548
uniprot
proteins
pubmed
18695062
uniprot
proteins
pubmed
19520594
uniprot
proteins
pubmed
20074988
uniprot
proteins
pubmed
20843780
uniprot
proteins
pubmed
22508010
uniprot
proteins
pubmed
23714749
uniprot
proteins
pubmed
23829229
uniprot
proteins
pubmed
24190800
uniprot
proteins
pubmed
25129007
uniprot
proteins
pubmed
25861990
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26437932
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
26760297
uniprot
proteins
pubmed
27536553
uniprot
proteins
pubmed
28207748
uniprot
proteins
pubmed
29282788
uniprot
proteins
pubmed
30298599
uniprot
proteins
pubmed
30833296
uniprot
proteins
pubmed
8281143
uniprot
proteins
pubmed
8427063
uniprot
proteins
sequence_length
176
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16582907, ECO:0000269|PubMed:16582910}; Multi-pass membrane protein {ECO:0000269|PubMed:16582907, ECO:0000269|PubMed:16582910}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..38; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 53..73; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 94..114; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 131..151; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins