TRAPPC2B
Description
The TRAPPC2B (trafficking protein particle complex subunit 2B) is a protein-coding gene located on chromosome 19.
TRAPPC2B, also known as MBP-1-interacting protein 2A, prevents the transcriptional repression and induction of cell death caused by ENO1. It may also play a role in the movement of vesicles from the endoplasmic reticulum to the Golgi apparatus.
TRAPPC2B is also known as MIP-2A, MIP2A, SEDLP, SEDLP1, TRAPPC2P1.
Associated Diseases
- snowflake vitreoretinal degeneration
- corneal endothelial dystrophy
- megalocornea
- keratoconus
- keratoconus 1
- 46,XX ovotesticular disorder of sex development
- macular corneal dystrophy
- Leber congenital amaurosis 8
- 46,XY complete gonadal dysgenesis
- congenital stromal corneal dystrophy
- cornea plana 2
- congenital primary aphakia
- Leber congenital amaurosis
- testicular agenesis
- congenital hereditary endothelial dystrophy of cornea
- EDICT syndrome
- 46,XY sex reversal 3
- refractive error
