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FLASH GENE

Symbol

CHRNA1

contributors: mct - updated : 12-01-2016

HGNC name	cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
HGNC id	1955

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMS1A , MPTLT3

Susceptibility

to autoimmune myasthenia

Variant & Polymorphism other	a functional bi-allelic variant in the promoter that is associated with early onset of autoimmune myasthenia (variant prevents binding of IRF8 and abrogates CHRNA1 promoter activity in thymic epithelial cells)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

AChR-alpha mRNA is over-expressed in muscle from mice with moderate to severe myasthenia gravis