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C9orf72 Antibodies
AND C9orf72 ELISA kits, C9orf72 Proteins
Many biological assays use antibodies to detect C9orf72, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with C9orf72 in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop C9orf72 antibodies...
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C9orf72 Infographic by Boster Bio
All C9orf72 Products
Product
Figures
Specificity
Applications
Price
Human, Mouse, Rat
Flow Cytometry, IHC-P, WB
$370
Cat # A00419-1
100 μg/vial
Cat # A00419-1
100 μg/vial
C9orf72 Overview
Facts about Guanine nucleotide exchange C9orf72.
Guanine nucleotide exchange C9orf72 (C9orf72)
Part of the C9orf72-SMCR8 complex, a complex that's guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complicated, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B in their busy GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069).
The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and regulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which contributes to autophagosome formation (PubMed:27334615).
Gene Information
| Human | |
|---|---|
| Gene Name: | C9orf72 |
| Uniprot: | Q96LT7 |
| Entrez: | 203228 |
Family
| Belongs to: |
|---|
| No superfamily |
Alternative Names
ALSFTD; C9orf72; chromosome 9 open reading frame 72; DENNL72; FTDALS; FTDALS1
Molecular Weight
Mass (kDA):
54.328 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 9p21.2 |
| Sequence: | 9; NC_000009.12 (27546546..27573866, complement) |
Tissue Specificity
Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level).
Subcellular Localizations
Nucleus. Cytoplasm. Cytoplasm, P-body. Cytoplasm, Stress granule. Endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Secreted. Cell projection, axon. Cell projection, growth cone. Perikaryon. Detected in the cytoplasm of neurons from brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). During corticogenesis, transitions from being predominantly cytoplasmic to a more even nucleocytoplasmic distribution (By similarity).; [Isoform 1]: Perikaryon. Cell projection, dendrite. Expressed diffusely throughout the cytoplasm and dendritic processes of cerebellar
Diseases
- Amyotrophic Lateral Sclerosis
- Sclerosis
- Primary Lateral Sclerosis
- Dementia
- Frontotemporal Dementia
- Frontotemporal Lobar Degeneration
- Neurodegenerative Disorders
- Feline Urological Syndrome
- Atrophy
- Alzheimer's Disease
- Nerve Degeneration
- Motor Neuron Disease
- Neuropathology Disease
Interacting Proteins
- ATG13
- CRX
- EIF2B2
- NMI
- RAB1A
- RB1CC1
- REL
- SMCR8
- ULK1
Pathways
- Pathogenesis
- Rna Processing
- Transport
- Osteoclast Differentiation
- Translation
- Localization
- Chromosome Segregation
PTMs
- Phosphorylation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/C9orf72
bosterbio.com/bosterbio-gene-info-cards/C9orf72
References
PMID: 21944778 by Dejesus-Hernandez M., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS.
PMID: 24132570 by Mori K., et al. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.