DISEASES

Disease-gene associations mined from literature

Literature associating SEC24D and Cole-Carpenter syndrome

SEC24D [ENSP00000280551]

Protein transport protein Sec24D; 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 SEC24C may have a different specificity compared to SEC24A and SEC24B. May more specifically package GPI-anchored proteins through the cargo receptor TMED10. May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5.

Synonyms:  SEC24D,  SEC24Dp,  hSEC24D,  D6RAE2,  D6RBM1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM