SEC24B
Description
The SEC24B (SEC24 homolog B, COPII coat complex component) is a protein-coding gene located on chromosome 4.
SEC24B is a protein involved in vesicle trafficking. It belongs to the SEC24 subfamily of the SEC23/SEC24 family. SEC24B has similarity to yeast Sec24p, a component of COPII, the coat protein complex responsible for vesicle budding from the ER. SEC24B plays a role in shaping the vesicle, cargo selection, and concentration. Two transcript variants encoding different isoforms have been found for this gene.
SEC24B is a component of the COPII coat protein complex, which is involved in the formation of transport vesicles from the endoplasmic reticulum (ER). COPII has two main functions: physically deforming the ER membrane into vesicles and selecting cargo molecules for transport to the Golgi complex. SEC24B plays a key role in cargo selection within the COPII complex. Together with SEC24A, it may have different cargo specificity compared to SEC24C and SEC24D. SEC24B preferentially packages cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes.
SEC24B is also known as SEC24.
Associated Diseases
- isolated spina bifida
- anencephaly 1
- spina bifida-hypospadias syndrome
- glycoprotein storage disease
- immunodeficiency 75
- isotretinoin-like syndrome
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- craniorachischisis
- dominant beta-thalassemia
- combined immunodeficiency due to OX40 deficiency
- erythroleukemia, familial, susceptibility to
