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GORAB encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. Additionally we are shipping Golgin, RAB6-Interacting Proteins (6) and Golgin, RAB6-Interacting Kits (4) and many more products for this protein.
Showing 10 out of 79 products:
Human Polyclonal GORAB Primary Antibody for EIA, WB - ABIN952578
Al-Dosari, Alkuraya: A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. in American journal of medical genetics. Part A 2009
Show all 2 references for 952578
Human Polyclonal GORAB Primary Antibody for IF, WB - ABIN530102
Hu, Liu, Chen, Chan, Wang, Huo, Zheng, Xie, Guan: SCYL1 binding protein 1 promotes the ubiquitin-dependent degradation of Pirh2 and has tumor-suppressive function in the development of hepatocellular carcinoma. in Carcinogenesis 2012
Human Polyclonal GORAB Primary Antibody for ICC, IF - ABIN4352325
Egerer, Emmerich, Fischer-Zirnsak, Chan, Meierhofer, Tuysuz, Marschner, Sauer, Barr, Mundlos, Kornak: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. in The Journal of investigative dermatology 2015
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 (show CCNF Antibodies) and RRM2 (show RRM2 Antibodies) proteins, thus constituting a dual regulatory circuit
rs17684886 (ZNRF1 (show ZNRF1 Antibodies)) and rs599019 (COLEC12 (show COLEC12 Antibodies)) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5 (show API5 Antibodies)) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes
SCYL1-BP1 plays a critical role in the regulation of EEA1 (show EEA1 Antibodies), BMPR2 (show BMPR2 Antibodies) and BRCA2 (show BRCA2 Antibodies) expression.
SCYL1BP1 can promote the degradation of MDM2 (show MDM2 Antibodies) protein and further inhibit the G1/S transition of lung SCC (show CYP11A1 Antibodies) lines. Reintroduction of SCYL1BP1 into lung SCC (show CYP11A1 Antibodies) lines significantly inhibited cell proliferation, migration, invasion and tumor formation.
Data suggest that SCYL1-BP1 is a novel regulator of the MDM2 (show MDM2 Antibodies)-p53 (show TP53 Antibodies) feedback loop and that it may be a potential tumor suppressor.
The chemotaxis signal pathway induced by chemokines CKbeta8 (show CCL23 Antibodies) and CKbeta8 (show CCL23 Antibodies)-1 is mediated via the Gi/Go protein, phospholipase C (PLC (show PLC Antibodies)) and protein kinase C delta (PKC delta (show PKCd Antibodies)).
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 (show RCHY1 Antibodies)
Study demonstrates that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts.
The G59S mutation in p150(glued (show DCTN1 Antibodies)) protein abrogates the normal function of the protein and accelerates motor neuron degeneration (show CLN8 Antibodies).
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