背景
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 ColeCarpenter 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.
