产品名称
Dok-7 Rabbit Polyclonal Antibody
别名
DOK7; C4orf25; Protein Dok-7; Downstream of tyrosine kinase 7
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=285489
Human Swissprot No.
Q18PE1
Human Swissprot Link
http://www.uniprot.org/uniprotkb/Q18PE1/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=231134
Mouse Swissprot No.
Q18PE0
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q18PE0
免疫原
The antiserum was produced against synthesized peptide derived from human DOK7. AA range:10-59
特异性
Dok-7 Polyclonal Antibody detects endogenous levels of Dok-7 protein.
宿主
Polyclonal, Rabbit,IgG
背景介绍
docking protein 7(DOK7) Homo sapiens The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009],
组织表达
Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
细胞定位
Cell membrane ; Peripheral membrane protein . Cell junction, synapse . Accumulates at neuromuscular junctions. .
功能
disease:Defects in DOK7 are the cause of familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]; also called congenital myasthenic syndrome type 1B or CMS1B. LGM is a congenital myasthenic syndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.,function:Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.,similarity:Contains 1 IRS-type PTB domain.,similarity:Contains 1 PH domain.,subcellular location:Accumulates at neuromuscular junctions.,subunit:Interacts with the cytoplasmic part of MUSK.,tissue specificity:Preferentiall eypressed in skeletal muscle and heart Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
