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Rabbit Anti-SEC23B antibody
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
Function:
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.
Subcellular Location:
Golgi apparatus membrane. Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.
DISEASE:
Defects in SEC23B are the cause of congenital dyserythropoietic anemia type 2 (CDA2) [MIM:224100]. An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins.
Similarity:
Belongs to the SEC23/SEC24 family. SEC23 subfamily.
SWISS:
Q15437
Gene ID:
10483
Database links:
Entrez Gene: 10483 Human
Entrez Gene: 27054 Mouse
Entrez Gene: 362226 Rat
Omim: 610512 Human
SwissProt: Q15437 Human
SwissProt: Q9D662 Mouse
Unigene: 369373 Human
Unigene: 248492 Mouse
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