DISEASES

Disease-gene associations mined from literature

Literature associating SEC24A and neuronal ceroid lipofuscinosis 8

SEC24A [ENSP00000381823]

Protein transport protein Sec24A; 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 SEC24B 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).

Synonyms:  SEC24A,  SEC24Ap,  hSEC24A,  H0Y9J6,  O95486 ...

Linkouts:  STRING  Pharos  UniProt  OMIM