MPV17

Gene

2 papers study it3 findings

HGNCNCBI GeneTaxon

  • 1 lab in 1 country
  • Funders: European Commission and 2 more
  • Animals1

Effects

3

Cochlear sensory epithelia degeneration

downin mice1

1 study
  1. MPV17 protects against cochlear sensory epithelia degeneration in mice.

    “Concomitant degeneration of cochlear sensory epithelia was reported as well.”

    Animalsshown by knockout

    Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

    Human molecular genetics

Focal segmental glomerulosclerosis

downin mice1

1 study
  1. MPV17 protects against focal segmental glomerulosclerosis in mice.

    “18-month or older mice developed focal segmental glomerulosclerosis (FSGS) with massive proteinuria.”

    Animalsshown by knockout

    Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

    Human molecular genetics

More on Focal segmental glomerulosclerosis

Mitochondrial DNA maintenance

upin mice1

1 study
  1. MPV17 increases mitochondrial DNA maintenance in mice.

    “We found severe mtDNA depletion in liver and, albeit to a lesser extent, in skeletal muscle”

    Animalsshown by knockoutliver

    Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

    Human molecular genetics

More on Mitochondrial DNA maintenance

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