Disease-gene associations mined from literature

Literature associating KY and myofibrillar myopathy 7

KY [ENSP00000397598]

Kyphoscoliosis peptidase; Probable cytoskeleton-associated protease required for normal muscle growth. Involved in function, maturation and stabilization of the neuromuscular junction. May act by cleaving muscle-specific proteins such as FLNC (By similarity); Belongs to the transglutaminase-like superfamily.

Synonyms:  KY,  B4DGA7,  Q8NBH2,  B4DGA7p,  hB4DGA7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM