USP27X gene

ubiquitin specific peptidase 27, X-linked

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 mental retardation. [provided by RefSeq, Dec 2016]

From UniProt:

Deubiquitinase that can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal. By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity.

From NCBI Gene:

  • MENTAL RETARDATION, X-LINKED 105

From UniProt:

Mental retardation, X-linked 105 (MRX105): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. [MIM:300984]

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23

Molecular Location: base pairs 49,879,867 to 49,882,565 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.23, which is the short (p) arm of the X chromosome at position 11.23
  • MRX105
  • USP22L
  • USP27