DISEASES

Disease-gene associations mined from literature

Literature associating SEC24B and hyperekplexia

SEC24B [ENSP00000428564]

Protein transport protein Sec24B; Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex . Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296); Belongs to the SEC23/SEC24 family. SEC24 subfamily.

Synonyms:  SEC24B,  SEC24Bp,  hSEC24B,  O95487,  O95487p ...

Linkouts:  STRING  Pharos  UniProt