Gene: SEC24D

Alternate names for this Gene: CLCRP2

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q26

Description of this Gene: SEC24 homolog D, COPII coat complex component

Type of Gene: protein-coding

rs760670617 in SEC24D gene and COLE-CARPENTER SYNDROME 2 PMID 25683121 2015 Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

rs10518325 in SEC24D gene and Myocardial Infarction PMID 25948407 2015 Genome-wide association study of perioperative myocardial infarction after coronary artery bypass surgery.