ATP6V1B1

A gene on chromosome 2p13.1 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation. The ATP6V1B1 protein is found primarily in the kidney.
Molecular pathology
ATP6V1B1 mutations cause distal renal tubular acidosis with sensorineural deafness.

单词	atp6v1b1
释义	ATP6V1B1 ATP6V1B1 A gene on chromosome 2p13.1 that encodes a subunit of H+-ATPase (also known as V-ATPase, vacuolar ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles, which is required for an array of molecular processes, including protein sorting, zymogen activation, receptor-mediated endocytosis and synaptic vesicle proton gradient generation. The ATP6V1B1 protein is found primarily in the kidney. Molecular pathology ATP6V1B1 mutations cause distal renal tubular acidosis with sensorineural deafness.
随便看	gintsburg, ilia iakovlevich ginty jocius & associates gin up ginv gin wheel ginz ginza glasgow hearing aid benefit profile glasgow high school glasgow homelessness network glasgow homoeopathic hospital outcome score glasgow housing association glasgow institute of psychosocial interventions glasgow international jazz festival glasgow kiss glasgow light opera club glasgow management training programme glasgow marine technology centre glasgow media group glasgow medical journal glasgow meningococcal septicaemia prognostic score glasgow middle school glasgow minimum essential medium glasgow, mt, usa glasgow museum of transport