Basic Information
MANE select
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| GUUUGACGUGGCAGUUCCCAGCCCAGCUGCAACUCCGAGCGUGAGUCCA… | 4021 nt | 0.4549 | |
| GUUUGACGUGGCAGUUCCCAGCCCAGCUGCAACUCCGAGCGUGAGUCCA… | 4018 nt | 0.4547 |
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. [provided by RefSeq, Dec 2015]
Forensic Context
A study in mice demonstrated that chronic methamphetamine administration significantly upregulated the SEC24D in oligodendrocytes, where it is involved in the protein processing of endoplasmic reticulum pathway, indicating a specific disruption in cellular protein handling within this glial cell type [Oladapo et al. DOI:10.3390/Ijms26020649].