DISEASES

Disease-gene associations mined from literature

Literature associating MIA3 and alcoholic neuropathy

MIA3 [ENSP00000340900]

Transport and Golgi organization protein 1 homolog; Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum; Belongs to the MIA/OTOR family. Tango1 subfamily.

Synonyms:  MIA3,  MIA3p,  hMIA3,  Q5JRA6,  KIAA0268 ...

Linkouts:  STRING  Pharos  UniProt  OMIM