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Mouse Anti-GOSR2 Recombinant Antibody (99) (CBMAB-AP2584LY)


See all GOSR2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
99
Antibody Isotype
IgG2a
Application
ELISA, IHC, WB

Basic Information

Immunogen
Fusion protein of GOSR2/Membrin
Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Golgi SNAP Receptor Complex Member 2
Entrez Gene ID
9570
UniProt ID
O14653
Alternative Names
Golgi SNAP Receptor Complex Member 2; 27 KDa Golgi SNARE Protein; Membrin; GS27; BOS1; EPM6;
Function
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
Biological Process
Golgi to vacuole transport Source: GO_Central
Intra-Golgi vesicle-mediated transport Source: UniProtKB
Protein targeting to vacuole Source: GO_Central
Retrograde transport, endosome to Golgi Source: GO_Central
Vesicle fusion with Golgi apparatus Source: GO_Central
Cellular Location
Cis-Golgi network membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane. Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus.
Involvement in disease
Epilepsy, progressive myoclonic 6 (EPM6):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Topology
Cytoplasmic: 1-190
Helical: 191-211
Vesicular: 212

Aburayyan, A., Carlson, R. J., Rabie, G. N., Lee, M. K., Gulsuner, S., Walsh, T., ... & King, M. C. (2023). Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. Human molecular genetics, ddad066.

Henige, H., Kaur, S., & Pappas, K. (2021). Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report. European Journal of Medical Genetics, 64(4), 104184.

Stemmerik, M. G., Borch, J. D. S., Dunø, M., Krag, T., & Vissing, J. (2021). Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Human Mutation, 42(9), 1101-1106.

Offerhaus, J., Podliesna, S., Verkerk, A. O., Marchal, G., Lodder, L. E., Boukens, B. J. B., ... & Bezzina, C. R. (2020). Membrin/GOSR2 is a novel NaV1. 5-interacting protein modulating cardiac conduction. European Heart Journal, 41(Supplement_2), ehaa946-3598.

Jepson, J. E., Praschberger, R., & Krishnakumar, S. S. (2019). Mechanisms of neurological dysfunction in GOSR2 progressive myoclonus epilepsy, a golgi SNAREopathy. Neuroscience, 420, 41-49.

Praschberger, R. (2018). Expanding the mutational spectrum and investigating the pathophysiology of GOSR2 mediated progressive myoclonus epilepsy (Doctoral dissertation, UCL (University College London)).

Larson, A. A., Baker, P. R., Milev, M. P., Press, C. A., Sokol, R. J., Cox, M. O., ... & Moore, S. A. (2018). TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Skeletal muscle, 8(1), 1-10.

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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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