GORAB blocking peptide
GORAB Antibody (N-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Mar 2009]
Uniprot Description
SCYL1BP1: Defects in GORAB are the cause of geroderma osteodysplasticum (GO); also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation. Belongs to the GORAB family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 1q24.2
Cellular Component: cytoplasm; Golgi apparatus; nucleolus; nucleoplasm; nucleus
Molecular Function: protein binding
Disease: Geroderma Osteodysplasticum
Research Articles on GORAB
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Product Notes
The GORAB gorab (Catalog #AAA9228089) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "GORAB, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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