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Sec23 homolog B
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] (from
Eyden et al., Tianjin, China. In Ann Hematol, 2014
Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H).
Iolascon et al., Napoli, Italy. In Am J Hematol, 2011
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.
Perrotta et al., Rotterdam, Netherlands. In Orphanet J Rare Dis, 2010
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
These results provide in vivo evidence for SEC23B selectivity in erythroid differentiation and show that SEC23A and SEC23B, although highly related paralogous secretory COPII components, are nonredundant in erythrocyte maturation.