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GORAB encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi.
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Human Polyclonal GORAB Primary Antibody pour 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. dans Carcinogenesis 2012
Human Polyclonal GORAB Primary Antibody pour 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. dans The Journal of investigative dermatology 2015
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 (Montrer CCNF Anticorps) and RRM2 (Montrer RRM2 Anticorps) proteins, thus constituting a dual regulatory circuit
rs17684886 (ZNRF1 (Montrer ZNRF1 Anticorps)) and rs599019 (COLEC12 (Montrer COLEC12 Anticorps)) are associated with diabetic retinopathy and rs6427247 (SCYL1BP1) and rs899036 (API5 (Montrer API5 Anticorps)) are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes
SCYL1-BP1 plays a critical role in the regulation of EEA1 (Montrer EEA1 Anticorps), BMPR2 (Montrer BMPR2 Anticorps) and BRCA2 (Montrer BRCA2 Anticorps) expression.
SCYL1BP1 can promote the degradation of MDM2 (Montrer MDM2 Anticorps) protein and further inhibit the G1/S transition of lung SCC (Montrer CYP11A1 Anticorps) lines. Reintroduction of SCYL1BP1 into lung SCC (Montrer CYP11A1 Anticorps) lines significantly inhibited cell proliferation, migration, invasion and tumor formation.
Data suggest that SCYL1-BP1 is a novel regulator of the MDM2 (Montrer MDM2 Anticorps)-p53 (Montrer TP53 Anticorps) feedback loop and that it may be a potential tumor suppressor.
The chemotaxis signal pathway induced by chemokines CKbeta8 (Montrer CCL23 Anticorps) and CKbeta8 (Montrer CCL23 Anticorps)-1 is mediated via the Gi/Go protein, phospholipase C (PLC (Montrer PLC Anticorps)) and protein kinase C delta (PKC delta (Montrer PKCd Anticorps)).
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 (Montrer RCHY1 Anticorps)
The G59S mutation in p150(glued (Montrer DCTN1 Anticorps)) protein abrogates the normal function of the protein and accelerates motor neuron degeneration (Montrer CLN8 Anticorps).
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