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GORAB encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. Zusätzlich bieten wir Ihnen Golgin, RAB6-Interacting Antikörper (83) und Golgin, RAB6-Interacting Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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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 (zeige CCNF Proteine) and RRM2 (zeige RRM2 Proteine) proteins, thus constituting a dual regulatory circuit
rs17684886 (ZNRF1 (zeige ZNRF1 Proteine)) and rs599019 (COLEC12 (zeige COLEC12 Proteine)) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5 (zeige API5 Proteine)) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes
SCYL1-BP1 plays a critical role in the regulation of EEA1 (zeige EEA1 Proteine), BMPR2 (zeige BMPR2 Proteine) and BRCA2 (zeige BRCA2 Proteine) expression.
SCYL1BP1 can promote the degradation of MDM2 (zeige MDM2 Proteine) protein and further inhibit the G1/S transition of lung SCC (zeige CYP11A1 Proteine) lines. Reintroduction of SCYL1BP1 into lung SCC (zeige CYP11A1 Proteine) lines significantly inhibited cell proliferation, migration, invasion and tumor formation.
Data suggest that SCYL1-BP1 is a novel regulator of the MDM2 (zeige MDM2 Proteine)-p53 (zeige TP53 Proteine) feedback loop and that it may be a potential tumor suppressor.
The chemotaxis signal pathway induced by chemokines CKbeta8 (zeige CCL23 Proteine) and CKbeta8 (zeige CCL23 Proteine)-1 is mediated via the Gi/Go protein, phospholipase C (PLC (zeige PLC Proteine)) and protein kinase C delta (PKC delta (zeige PKCd Proteine)).
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 (zeige RCHY1 Proteine)
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