USP51 Chromosome X

Ubiquitin specific peptidase 51
1 variant 1 Health Risk

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What This Gene Does
Enables chromatin binding activity; deubiquitinase activity; and histone binding activity. Involved in DNA repair-dependent chromatin remodeling; regulation of cell cycle process; and regulation of double-strand break repair. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
Xp11.21
Ensembl
ENSG00000247746
Associated Conditions (1)
Short stature
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1569197778 Health Risk Pathogenic Short stature, Short stature
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