USP24 Chromosome 1

Ubiquitin specific peptidase 24

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in USP24.

What This Gene Does

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

Ubiquitin specific peptidases

Locus Type

gene with protein product

Location

1p32.3

Ensembl

ENSG00000162402

Associated Conditions (1)

Short stature

Key Variants

RS1557523211

Likely pathogenic

Short stature, Short stature

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1557523211	Health Risk	Likely pathogenic	Short stature, Short stature