GOSR2 gene

golgi SNAP receptor complex member 2

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

From NCBI Gene:

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]

From UniProt:

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

From NCBI Gene:

  • Epilepsy, progressive myoclonic 6

From UniProt:

Epilepsy, progressive myoclonic 6 (EPM6): A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. [MIM:614018]

Cytogenetic Location: 17q21, which is the long (q) arm of chromosome 17 at position 21

Molecular Location: base pairs 46,923,086 to 46,975,519 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21, which is the long (q) arm of chromosome 17 at position 21
  • Bos1
  • EPM6
  • GS27