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The protein encoded by SEC23B is a member of the SEC23 subfamily of the SEC23\\/SEC24 family, which is involved in vesicle trafficking. Additionally we are shipping Sec23 Homolog B (S. Cerevisiae) Antibodies (30) and Sec23 Homolog B (S. Cerevisiae) Proteins (6) and many more products for this protein.
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SEC23B-Y462C congenital dyserythropoietic anemia type II is only seen in a distinct Indian community (Vaish) in whom a recessively inherited shared haplotype can be showed, consistent with a founder effect.
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A --> G mutation, and pseudo-Gaucher cells in two siblings has been described.
ALG-2 (show PDCD6 ELISA Kits) attenuates COPII budding in vitro and stabilizes the Sec23/Sec31A (show SEC31A ELISA Kits) complex.
Both probands with congenital dyserythropoietic anemia IotaI in the second family were homozygotes of the SEC23B gene with mutation c.938G>A (R313H).
Mutations in SEC23B lead to congenital dyserythropoietic anemia type II due to alterations in coat protein (COP)II complex trafficking machinery. [REVIEW]
study identified four novel SEC23B mutations associated with ongenital dyserythropoietic anemia type II disease; also demonstrated that the genetic alteration results in a significant decrease of SEC23B transcript in erythroid precursors
Data indicate that SEC23B founder mutations E109K and R14W account for about 54% of all mutations in CDA II patients in Italy; data suggest R14W occurred Southern Italy, E109K is more widespread within Europe.
Correlation between SEC23B mutations and congenital dyserythropoietic anemia type II parameters shows that addition of one missense mutation and one nonsense mutation tends to produce a more severe presentation then association of two missense mutations.
Most congenital dyserythropoietic anemia II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II.
Results show that transplantation of SEC23B-deficient hematopoietic stem cells does not result in a hematopoietic stem cells phenotype.
In SEC23B-deficient embryonic pancreas, defects occur in exocrine and endocrine tissues shortly after differentiation.
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.
SEC23-like protein B
, SEC23-related protein B
, protein transport protein Sec23B
, transport protein SEC23B
, SEC23-related protein A
, protein transport protein Sec23A