TRAPPC2L gene

trafficking protein particle complex 2 like

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

From NCBI Gene:

This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

From UniProt:

Plays a role in vesicular transport from endoplasmic reticulum to Golgi.

From NCBI Gene:

  • ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS

From UniProt:

Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB): An autosomal recessive disease characterized by progressive encephalopathy exacerbated by febrile illness and associated with severe neurodevelopmental delay, episodes of rhabdomyolysis, developmental regression, epilepsy and tetraplegia. [MIM:618331]

Cytogenetic Location: 16q24.3, which is the long (q) arm of chromosome 16 at position 24.3

Molecular Location: base pairs 88,856,220 to 88,862,686 on chromosome 16 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 16q24.3, which is the long (q) arm of chromosome 16 at position 24.3
  • HSPC176
  • PERRB