Recombinant Human 43 kDa receptor-associated protein of the synapse (RAPSN)

1. Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence. PMID: 28495245
2. Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. PMID: 28024842
3. Hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with breast cancer. PMID: 27577081
4. These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity. PMID: 26330529
5. Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain. PMID: 22326364
6. a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report] PMID: 21372719
7. Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis. PMID: 21305573
8. An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN. PMID: 20930056
9. nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn PMID: 20978122
10. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome PMID: 11791205
11. E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome PMID: 12651869
12. Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome PMID: 12730725
13. Twenty patients with the recessive form of congenital myasthenic syndrome with no mutations in the AChR subunit have been tested for this gene; five patients have been found to carry mutations. PMID: 12807980
14. Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction. PMID: 15036330
15. recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of postsynaptic congenital myasthenic syndrome PMID: 15252722
16. These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and delta-catenin. PMID: 15282317
17. The patient presents with an early onset sporadic congenital myasthenic syndrome was found The mutation RAPSN N88K was found heterozygously to a large deletion of about 4.5 kb disrupting the RAPSN gene. PMID: 15482960
18. Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic syndromes. PMID: 16931511
19. No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. PMID: 18179903
20. All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients. PMID: 19620612

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HGNC: 9863

OMIM: 208150

KEGG: hsa:5913

STRING: 9606.ENSP00000298854

UniGene: Hs.81218