Gene Symbol | KY |
Entrez Gene ID | 339855 |
Full Name | kyphoscoliosis peptidase |
Synonyms | MFM7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myopathy, myofibrillar, 7, 617114 (3) |