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MPV17

MPV17

Protein-coding gene in the species Homo sapiens

Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown

MPV17

Mitochondrial DNA depletion syndrome

Medical condition

later in infancy or in childhood. In MDDS associated with mutations in MPV17 that primarily affect the brain and the liver, the symptoms are similar

Mitochondrial DNA depletion syndrome

Mitochondrial_DNA_depletion_syndrome

Navajo Nation

Largest Federally recognized tribe in the United States

(June 28, 2009). "Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene". The American Journal of Human Genetics. 79 (3): 544–548. doi:10.1086/506913

Navajo Nation

Navajo_Nation

MPV17 mitochondrial inner membrane protein like 2

Protein-coding gene in the species Homo sapiens

MPV17 mitochondrial inner membrane protein like 2 is a protein that in humans is encoded by the MPV17L2 gene. GRCh38: Ensembl release 89: ENSG00000254858

MPV17 mitochondrial inner membrane protein like 2

MPV17_mitochondrial_inner_membrane_protein_like_2

Charcot–Marie–Tooth disease classifications

Peripheral nervous system disorders

Autosomal dominant CMT2DD 618036 ATP1A1 1p13.1 Autosomal dominant CMT2EE 618400 MPV17 2p23.3 Autosomal recessive CMT3 CMT3 145900 MPZ EGR2 PMP22 PRX 1q23.3 10q21

Charcot–Marie–Tooth disease classifications

Charcot–Marie–Tooth_disease_classifications

List of human protein-coding genes 5

HGNC:1180; Q15777 9751 MPRIP HGNC:30321; Q6WCQ1 9752 MPST HGNC:7223; P25325 9753 MPV17 HGNC:7224; P39210 9754 MPV17L HGNC:26827; Q2QL34 9755 MPV17L2 HGNC:28177;

List of human protein-coding genes 5

List_of_human_protein-coding_genes_5

List of OMIM disorder codes

C10orf2 Mitochondrial DNA depletion syndrome, hepatocerebral form; 251880; MPV17 Mitochondrial DNA depletion syndrome, myopathic form; 609560; TK2 Mitochondrial

List of OMIM disorder codes

List_of_OMIM_disorder_codes