Anti-Fukutin Antibody (CAB1385)
- SKU:
- CAB1385
- Product Type:
- Antibody
- Antibody Type:
- Monoclonal Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Synonyms:
- FKTN
- Synonyms:
- CMD1X
- Synonyms:
- FCMD
- Synonyms:
- LGMD2M
- Synonyms:
- MDDGA4
- Synonyms:
- MDDGB4
- Synonyms:
- MDDGC4
- Synonyms:
- fukutin
Description
| Product Name: | Fukutin Rabbit mAb |
| Product Code: | CAB1385 |
| Size: | 20uL, 50uL, 100uL |
| Synonyms: | FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin |
| Applications: | WB, IHC |
| Reactivity: | Human, Mouse, Rat |
| Host Species: | Rabbit |
| Immunogen: | A synthesized peptide derived from human Fukutin. |
| Applications: | WB, IHC |
| Recommended Dilutions: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
| Reactivity: | Human, Mouse, Rat |
| Positive Samples: | BxPC-3, RD, U-87MG, Mouse testis, Mouse brain, Mouse heart, Rat liver |
| Immunogen: | A synthesized peptide derived from human Fukutin. |
| Purification Method: | Affinity purification |
| Storage: | 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: | 2218 |
| Uniprot: | O75072 |
| Cellular Location: | Golgi apparatus membrane, Single-pass type II membrane protein |
| Calculated MW: | 51kDa |
| Observed MW: | 54KDa |
| UniProt Protein Function: | FCMD: May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4); also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4). An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI in some cases, and absence of mental retardation. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4). MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids. Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X); also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the LicD transferase family. |
| UniProt Protein Details: | Protein type:Endoplasmic reticulum; EC 2.-.-.-; Membrane protein, integral; Transferase Chromosomal Location of Human Ortholog: 9q31.2 Cellular Component: cis-Golgi network; endoplasmic reticulum; extracellular space; Golgi apparatus; nucleus Biological Process: muscle development; negative regulation of cell proliferation; negative regulation of JNK cascade; nervous system development; protein amino acid O-linked mannosylation Disease: Cardiomyopathy, Dilated, 1x; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 4; Muscular Dystrophy-dystroglycanopathy (congenital Without Mental Retardation), Type B, 4; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 4 |
| NCBI Summary: | The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010] |
| UniProt Code: | O75072 |
| NCBI GenInfo Identifier: | 28381358 |
| NCBI Gene ID: | 2218 |
| NCBI Accession: | O75072.2 |
| UniProt Secondary Accession: | O75072,Q3MIJ1, Q96TE1, Q9P295, B4DUX9, J3KP13, |
| UniProt Related Accession: | O75072 |
| Molecular Weight: | 49,832 Da |
| NCBI Full Name: | Fukutin |
| NCBI Synonym Full Names: | fukutin |
| NCBI Official Symbol: | FKTN |
| NCBI Official Synonym Symbols: | FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4 |
| NCBI Protein Information: | fukutin |
| UniProt Protein Name: | Fukutin |
| UniProt Synonym Protein Names: | Fukuyama-type congenital muscular dystrophy protein |
| Protein Family: | Fukutin |
| UniProt Gene Name: | FKTN |
| UniProt Entry Name: | FKTN_HUMAN |
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