Home > Gene Browser > USP27X

USP27X

Synonyms
MRX105, USP22L, USP27, XLID105
External resources
Summary
This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
185
Likely benign
125
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on USP27X gene.

Phenotype class
Patients in 3billion (%)

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