Recombinant Human Protein transport protein Sec23B (SEC23B)

1. A Y462C mutation was found in 5 members of a consanguineous Indian family. In the homozygous patient, it resulted in congenital dyserythropoietic anemia type II. PMID: 28879554
2. described the functional interaction between GATA1 and SEC23B genes in two patients with suspected congenital dyserythropoietic anemia type II PMID: 28550189
3. these data demonstrate an equivalent function for SEC23A/B, with evolutionary shifts in the transcription program likely accounting for the distinct phenotypes of SEC23A/B deficiency within and across species, a paradigm potentially applicable to other sets of paralogous genes. PMID: 30065114
4. novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the congenital dyserythropoietic anemia type II in the family PMID: 29188620
5. Mutation in SEC23B gene is associated with congenital dyserythropoietic anemia. PMID: 29031773
6. miR-130a is an epigenetically regulated miRNA involved in regulation of key molecular and phenotypic features of prostate carcinogenesis, acting as a tumour suppressor miRNA by targeting SEC23B and DEPDC1. PMID: 27984115
7. 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. PMID: 25418799
8. Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. PMID: 26522472
9. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A --> G mutation, and pseudo-Gaucher cells in two siblings has been described. PMID: 24801240
10. Both probands with congenital dyserythropoietic anemia IotaI in the second family were homozygotes of the SEC23B gene with mutation c.938G>A (R313H). PMID: 24196372
11. Mutations in SEC23B lead to congenital dyserythropoietic anemia type II due to alterations in coat protein (COP)II complex trafficking machinery. [REVIEW] PMID: 22764119
12. 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 PMID: 22208203
13. 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. PMID: 21850656
14. 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. PMID: 20015893
15. 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. PMID: 21252497
16. 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 PMID: 20941788
17. This study found SEC23B mutations in two patients previously classified as atypical congenital dyserythropoietic anemias presenting with hydrops foetalis. PMID: 20381388
18. Hetero- or homozygous mutation of CDAN2 causes hypoglycosylation of band 3, accumulation and hypoglycosylation of polyglycosylceramides, and accumulation of lactotriaosylceramide. PMID: 11836161
19. 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. PMID: 19561605
20. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. PMID: 19621418

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HGNC: 10702

OMIM: 224100

KEGG: hsa:10483

STRING: 9606.ENSP00000262544

UniGene: Hs.369373