Gene: USP30

Alternate names for this Gene: -

Gene Summary: USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008].

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: ubiquitin specific peptidase 30

Type of Gene: protein-coding

rs4388979 in USP30 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.