Anti-Fukutin Antibody (CAB1385)

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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
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Description

抗体名:Fukutin Rabbit mAb
抗体コード:CAB1385
サイズ:20uL, 50uL, 100uL
同義語:FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin
申し込み:WB, IHC
反応性:Human, Mouse, Rat
宿主種:Rabbit
免疫原:A synthesized peptide derived from human Fukutin.
申し込み:WB, IHC
推奨される希釈:WB 1:500 - 1:2000 IHC 1:50 - 1:200
反応性:Human, Mouse, Rat
ポジティブサンプル:BxPC-3, RD, U-87MG, Mouse testis, Mouse brain, Mouse heart, Rat liver
免疫原:A synthesized peptide derived from human Fukutin.
精製方法:Affinity purification
保管所:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
アイソタイプ:IgG
順序:Email for sequence
遺伝子ID:2218
Uniprot:O75072
セルラーロケーション:Golgi apparatus membrane, Single-pass type II membrane protein
計算された分子量:51kDa
観察された分子量: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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