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Proteintech
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Immunogen sequence: DVLVLARDI PPAVTGQWKL SDLRRYGAVP SGFIFEGGTR CGYWAGVFFL SSAEGEQISF LFDCIVRGIS PTKGPFGLRP VLPDPSPPGP STVEERVAQE ALETLQLEKR LSLLSHAGRP GSGGDDRSLS SSSSEASHLD VSASSRLTAW PEQSSSSAST SQEGPRPAAA QAAGEAMVGA SRPPPKPLRP RQLQEVGRQS SSDSGIATGS HSSYSSSLSS YAGSSLDVWR ATDELGSLLS LPAAGAPEPS LCTCLPGTVE YQVPTSLRAH YDTPRSLCLA PRDHSPPSQG SPGNSAARDS GGQTSAGCPS GWLGTRRRGL VMEAPQDSEA TLPGPAPGEP WEAGGPHAGP PPAFFSACPV CGGLKVNPPP (136-504 aa encoded by BC131544)
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Downstream of tyrosine kinase 7; Protein Dok-7
基因别名: C4orf25; CMS10; CMS1B; DOK7
UniProt ID: (Human) Q18PE1
Entrez Gene ID: (Human) 285489