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GORAB encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. 再加上，我们可以发Golgin, RAB6-Interacting 抗体 (82) 和 Golgin, RAB6-Interacting 试剂盒 (7)和数多这个蛋白质的别的产品。
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Novel compound heterozygous nonsense mutations were identified in the GORAB gene of a geroderma osteodysplastica patient.
in the present study a de novo deletion on 1q23.3-q24.2 combined with a GORAB missense mutation leads to a distinctive phenotype with features from Gerodermia osteodysplastica and also short stature, cutis laxa, frequent fractures, facial dysmorphism, cup-shaped ears and intellectual disability
SCYL1- BP1 affects the cell cycle through increasing steady state levels of Cyclin F (显示 CCNF 蛋白) and RRM2 (显示 RRM2 蛋白) proteins, thus constituting a dual regulatory circuit
rs17684886 (ZNRF1 (显示 ZNRF1 蛋白)) and rs599019 (COLEC12 (显示 COLEC12 蛋白)) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5 (显示 API5 蛋白)) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes
SCYL1-BP1 plays a critical role in the regulation of EEA1 (显示 EEA1 蛋白), BMPR2 (显示 BMPR2 蛋白) and BRCA2 (显示 BRCA2 蛋白) expression.
SCYL1BP1 can promote the degradation of MDM2 (显示 MDM2 蛋白) protein and further inhibit the G1/S transition of lung SCC (显示 CYP11A1 蛋白) lines. Reintroduction of SCYL1BP1 into lung SCC (显示 CYP11A1 蛋白) lines significantly inhibited cell proliferation, migration, invasion and tumor formation.
Data suggest that SCYL1-BP1 is a novel regulator of the MDM2 (显示 MDM2 蛋白)-p53 (显示 TP53 蛋白) feedback loop and that it may be a potential tumor suppressor.
The chemotaxis signal pathway induced by chemokines CKbeta8 (显示 CCL23 蛋白) and CKbeta8 (显示 CCL23 蛋白)-1 is mediated via the Gi/Go protein, phospholipase C (PLC (显示 PLC 蛋白)) and protein kinase C delta (PKC delta (显示 PKCd 蛋白)).
study supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of geroderma osteodysplastica
assessment of interaction with hPirh2 (显示 RCHY1 蛋白)
Gorab role in the abnormal osteoblast differentiation in the gerodermia osteodysplastica
The G59S mutation in p150(glued) protein abrogates the normal function of the protein and accelerates motor neuron degeneration.
This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described.
N-terminal kinase-like-binding protein 1
, NTKL-binding protein 1
, RAB6-interacting golgin
, SCY1-like 1 binding protein 1
, SCY1-like 1-binding protein 1
, SCYL1-binding protein 1
, dynactin 1, isoform 1; dynactin 1 (p150, Glued homolog); p150, Glued homolog; 150 kDa dynein-associated polypeptide; p150-glued