DISEASES

Disease-gene associations mined from literature

Literature associating COLQ and congenital myasthenic syndrome

COLQ [ENSP00000373298]

Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.

Synonyms:  COLQ,  A0A024R2P2,  Q9Y215,  S4R408,  Q9Y215p ...

Linkouts:  STRING  Pharos  UniProt  OMIM