Gene: LOC107987115

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MUSK

Alternate names for this Gene: CMS9|FADS|FADS1

Gene Summary: This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.3

Description of this Gene: muscle associated receptor tyrosine kinase

Type of Gene: protein-coding

rs387906803 in LOC107987115;MUSK gene and MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 20371544 2010 Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

PMID 24183479 2014 Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

PMID 23326516 2013 A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

PMID 19949040 2009 Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

PMID 15496425 2004 MUSK, a new target for mutations causing congenital myasthenic syndrome.