Search Thermo Fisher Scientific
Immunogen sequence: TLQLEKRLSL LSHAGRPGSG GDDRSLSSSS SEASHLDVSA SSRLTAWPEQ SSSSASTSQE
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