Cell Biology Antibodies 7
Anti-VPS13B Antibody (CAB17422)
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- SKU:
- CAB17422
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-VPS13B Antibody |
| Antibody SKU: | CAB17422 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant protein of human VPS13B. |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant protein of human VPS13B. |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 157680 |
| Uniprot: | Q7Z7G8 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | Refer to figures |
| Synonyms: | CHS1, COH1, VPS13B |
| Background: |
| UniProt Protein Function: | VPS13B: May be involved in protein sorting in post Golgi membrane traffic. Defects in VPS13B are a cause of Cohen syndrome (COH1). COH1 is a rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. Belongs to the VPS13 family. 6 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Vesicle Chromosomal Location of Human Ortholog: 8q22.2 Biological Process: protein transport Disease: Cohen Syndrome |
| NCBI Summary: | This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q7Z7G8 |
| NCBI GenInfo Identifier: | 35493725 |
| NCBI Gene ID: | 157680 |
| NCBI Accession: | NP_056058 |
| UniProt Secondary Accession: | Q7Z7G8,Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7 Q8NB77, Q9NWV1, Q9Y4E7, C9JD30, |
| UniProt Related Accession: | Q7Z7G8 |
| Molecular Weight: | 448,536 Da |
| NCBI Full Name: | vacuolar protein sorting-associated protein 13B isoform 3 |
| NCBI Synonym Full Names: | vacuolar protein sorting 13 homolog B (yeast) |
| NCBI Official Symbol: | VPS13B |
| NCBI Official Synonym Symbols: | CHS1; COH1 |
| NCBI Protein Information: | vacuolar protein sorting-associated protein 13B |
| UniProt Protein Name: | Vacuolar protein sorting-associated protein 13B |
| UniProt Synonym Protein Names: | Cohen syndrome protein 1 |
| UniProt Gene Name: | VPS13B |
| UniProt Entry Name: | VP13B_HUMAN |
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