MPV17 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MPV17 wild-type allele is located in the vicinity of 2p23.3 and is approximately 16 kb in length. This allele, which encodes mitochondrial inner membrane protein Mpv17, is involved in the homeostasis of mitochondrial deoxynucleoside triphosphates (dNTP) pools and in mitochondrial DNA (mtDNA) maintenance. Mutations in the gene are associated with Charcot-Marie-Tooth disease, axonal 2EE and mitochondrial DNA depletion syndrome 6 (hepatocerebral type).

**Synonyms:** - CMT2EE - Glomerulosclerosis Gene - MPV17, Mitochondrial Inner Membrane Protein Gene - MPV17, Mouse, Homolog of Gene - MTDPS6 - Mitochondrial Inner Membrane Protein MPV17 wt Allele - MpV17 Mitochondrial Inner Membrane Protein Gene - MpV17 Transgene, Murine Homolog, Glomerulosclerosis Gene - Mpv17, Human Homolog of Glomerulosclerosis and Nephrotic Syndrome Gene - SYM1