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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 NCBI)
Top mentioned proteins: Cytidine Deaminase, ACID, CD45, OUT, fibrillin-1
Papers on HEMPAS
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Eng et al., Cleveland, United States. In Am J Hum Genet, Dec 2015
SEC23B encodes Sec23 homolog B (S. cerevisiae), a component of coat protein complex II (COPII), which transports proteins from the endoplasmic reticulum (ER) to the Golgi apparatus.
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.
Trehan et al., In Hematology, Mar 2015
CDA type II, the most frequent variant, was recently shown to be caused by mutations in the gene encoding the secretory COPII component SEC23B.
Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
Zhang et al., China. In Sci Rep, 2014
Here we characterize mice deficient for SEC23A and studied interactions of Sec23a null allele with the previously reported Sec23b null allele.
Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.
Ginsburg et al., Ann Arbor, United States. In Mol Cell Biol, 2014
CDAII results from mutations in SEC23B.
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
Iolascon et al., Napoli, Italy. In Am J Hematol, 2014
Congenital Dyserythropoietic Anemia II (CDA II) is a rare hyporegenerative anemia of variable degree, whose causative gene is SEC23B.
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.
Uckan Cetinkaya et al., Ankara, Turkey. In Pediatr Transplant, 2014
Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.
Congenital dyserythropoietic anemia in China: a case report from two families and a review.
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).
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.
Toye et al., In Haematologica, 2013
Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations.
Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.
Tamary et al., Napoli, Italy. In Blood, 2013
The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23).
[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].
Nie et al., Beijing, China. In Zhonghua Xue Ye Xue Za Zhi, 2013
OBJECTIVE: To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA).
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.
Russo et al., Napoli, Italy. In Haematologica, 2012
The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B.
The COPII pathway and hematologic disease.
Ginsburg et al., Ann Arbor, United States. In Blood, 2012
CDAII is caused by mutations in the SEC23B gene, which encodes a core component of the coat protein complex II (COPII).
[Congenital dyserythropoietic anemia type II: a case report and literature review].
Zhang et al., Tianjin, China. In Zhonghua Xue Ye Xue Za Zhi, 2012
It is necessary to improve the awareness of CDA-II, and to set-up its responsible gene analysis, i.e., CDAN2 gene and SEC23B gene detection.
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
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.
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Iolascon et al., Napoli, Italy. In Am J Hematol, 2010
found 19 novel variants in the homozygous or the compound heterozygous state in 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry
E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
Tamary et al., Tel Aviv-Yafo, Israel. In Acta Haematol, 2010
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.
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
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
CDAII presenting as hydrops foetalis: molecular characterization of two cases.
Zanella et al., Milano, Italy. In Blood Cells Mol Dis, 2010
This study found SEC23B mutations in two patients previously classified as atypical congenital dyserythropoietic anemias presenting with hydrops foetalis.
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Heimpel et al., Ulm, Germany. In Nat Genet, 2009
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.
Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.
Knapik et al., Nashville, United States. In Nat Genet, 2006
We demonstrate that the paralogous gene sec23b is also an essential component of the ECM secretory pathway in chondrocytes.
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