Aliases for SEC24D Gene
External Ids for SEC24D Gene
Previous GeneCards Identifiers for SEC24D Gene
The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for SEC24D Gene
SEC24D (SEC24 Homolog D, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24D include Cole-Carpenter Syndrome 2 and Cole-Carpenter Syndrome. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Normal wtCFTR traffic / ER-to-Golgi. An important paralog of this gene is SEC24C.
UniProtKB/Swiss-Prot for SEC24D Gene
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.