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The protein encoded by SEC24D is a member of the SEC24 subfamily of the SEC23\\/SEC24 family, which is involved in vesicle trafficking.
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The study found missense mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfect.
three mutant SEC24D alleles in a rare autosomal-recessively inherited skeletal disorder characterized by pre- and postnatal bone fragility, skull ossification defects, craniofacial dysmorphism, and short stature
A triple arg motif mediates alpha(2B)-adrenergic receptor (show ADRA2B Proteins) interaction with Sec24C (show SEC24C Proteins)/D and export
Mutations in the carboxyl-terminal SEC24 binding motif of the serotonin transporter (show SLC6A4 Proteins) impair folding of the transporter
concentrative endoplasmic reticulum-export is contingent on a direct interaction of GAT1 with Sec24D.
SEC24D is absolutely required for early embryonic development in the mouse, with complete deficiency resulting in uniform loss prior to the blastocyst stage.
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.
SEC24 related gene family, member D
, SEC24-related protein D
, protein transport protein Sec24D