TRAPPC11 gene

trafficking protein particle complex 11

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

From NCBI Gene:

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

From UniProt:

Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Limb-girdle muscular dystrophy, type 2S

From UniProt:

Limb-girdle muscular dystrophy 2S (LGMD2S): A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. [MIM:615356]

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1

Molecular Location: base pairs 183,659,267 to 183,713,594 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q35.1, which is the long (q) arm of chromosome 4 at position 35.1
  • C4orf41
  • FOIGR
  • GRY
  • LGMD2S