RAB40AL gene

RAB40A, member RAS oncogene family-like

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

From NCBI Gene:

This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]

From UniProt:

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

From UniProt:

Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP): A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:300519]

Cytogenetic Location: Xq22.1, which is the long (q) arm of the X chromosome at position 22.1

Molecular Location: base pairs 102,937,272 to 102,938,300 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq22.1, which is the long (q) arm of the X chromosome at position 22.1
  • MRXSMP
  • RAR2
  • RLGP