External Ids for KY Gene
Previous GeneCards Identifiers for KY Gene
The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
GeneCards Summary for KY Gene
KY (Kyphoscoliosis Peptidase) is a Protein Coding gene. Diseases associated with KY include Myopathy, Myofibrillar, 7 and Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is NEB.
UniProtKB/Swiss-Prot Summary for KY Gene
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).