Gene: TOM1L2

Alternate names for this Gene: -

Gene Summary: This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: target of myb1 like 2 membrane trafficking protein

Type of Gene: protein-coding