TRAPPC2

Function

Prevents transcriptional repression and induction of cell death by ENO1 (By similarity). May play a role in vesicular transport from endoplasmic reticulum to Golgi.

Involvement in disease

Spondyloepiphyseal dysplasia tarda

SEDT

X-linked recessive disorder of endochondral bone formation.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the TRAPP small subunits family. Sedlin subfamily.

Tissue Specificity

Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta and lymphocytes.

Cellular localization

• Cytoplasm
• Perinuclear region
• Endoplasmic reticulum-Golgi intermediate compartment
• Nucleus
• Cytoplasm
• Localized in perinuclear granular structures.

Alternative names

SEDL, TRAPPC2, Trafficking protein particle complex subunit 2, Sedlin

Database links

swissprot:P0DI81 entrezGene:6399 omim:300202 swissprot:O14582 swissprot:P0DI82