RUSC2 gene

RUN and SH3 domain containing 2

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

From NCBI Gene:

This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]

From NCBI Gene:

  • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61

From UniProt:

Mental retardation, autosomal recessive 61 (MRT61): 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. MRT61 patients manifest delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. Refractory seizures and brain abnormalities are present in severely affected patients. [MIM:617773]

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3

Molecular Location: base pairs 35,489,833 to 35,561,898 on chromosome 9 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 9p13.3, which is the short (p) arm of chromosome 9 at position 13.3
  • Iporin
  • MRT61