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FLASH GENE

Symbol

COLQ

contributors: mct/npt - updated : 19-09-2023

HGNC name	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
HGNC id	2226

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMS1C

related resource

ESTHER wwwserver:ESTerases and alpha/beta Hydrolase Enzymes and Relatives

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in ColQ-CTD cause endplate ACHE deficiency by compromising COLQ-MUSK interaction at the neuromuscular junction (NMJ)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS