Recombinant Human Stimulated by retinoic acid gene 6 protein homolog (STRA6), partial

1. Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene. PMID:30204971
2. The knockdown of STRA6 slightly enhanced nodule formation at the late stage of osteoblast differentiation, and overexpression of STRA6 in ST2 cells enhanced adipocyte differentiation. PMID:29067460
3. these data demonstrate a key role of STRA6 and RBP4 in the maintenance of colon cancer self-renewal and that this pathway is an important link through which consumption of HFD contributes to colon carcinogenesis. PMID:28689994
4. this study suggested that a role of STRA6 polymorphism could also be of value in predicting the risk of type 2 diabetes mellitus(T2DM) while RARRES2 polymorphism could not predict the risk of T2DM PMID:27446956
5. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. PMID:26373900
6. These data establish that holo-RBP and its receptor STRA6 are potent oncogenes and suggest that the pathway is a novel target for therapy of some human cancers. PMID:25237067
7. Evidence for the existence of a transmembrane pore, analogous to the pore of ion channels, in STRA6. PMID:24223695
8. STRA6 has a role for regulating retinoid homeostasis and in helping to program signaling that drives proliferation and differentiation of human skin cells PMID:24284421
9. Stra6, a retinoic acid-responsive gene, participates in p53-induced apoptosis after DNA damage. PMID:23449393
10. Analysis of FRAS1 and STRA6 mutations in the same family with eye anomalies. PMID:22283518
11. Findings suggest that heterozygosity for the STRA6 gene mutation may be associated with ocular abnormalities. PMID:22686418
12. TTR blocks the ability of holo-retinol-binding protein to associate with STRA6 and thereby effectively suppresses both STRA6-mediated retinol uptake and STRA6-initiated cell signaling. PMID:22826435
13. STRA6 orchestrates a multicomponent machinery that couples vitamin A homeostasis and metabolism to activation of a signaling cascade and that, in turn, STRA6 signaling regulates the cellular uptake of the vitamin. PMID:22665496
14. STRA6 mutations can cause isolated eye malformations in addition to the congenital anomalies observed in MWS. PMID:21901792
15. SNPs in STRA6, gene coding the cell surface receptor for RBP4, were significantly associated with type 2 diabetes and further genetic and functional studies are required to understand and ascertain its role in the manifestation of type 2 diabetes. PMID:20625434
16. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation PMID:17273977
17. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. PMID:17503335
18. In fibroboasts, STRA6 transports retinol bidirectionally in an RBP4 dependent manner. PMID:18316031
19. study identifies an essential functional domain in STRA6 and a human polymorphism in this domain that leads to reduced vitamin A uptake activity PMID:18387951
20. This study explores the association of STRA6 and SKI genes in a cohort of subjects with anophthalmia and microphthalmia. PMID:19112531
21. Two novel STRA6 mutations in a patient with anophthalamia and diaphragmatic eventration are reported. PMID:19213032
22. Six novel mutations were identified in STRA6. PMID:19309693

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HGNC: 30650

UNIGENE: Hs.24553

KEGG: hsa:64220

STRING: 9606.ENSP00000456609

OMIM: 601186