Entity Details

Primary name KY
Entity type gene
Source Source Link

Details

PrimaryID339855
RefseqGeneNG_054713
SymbolKY
Namekyphoscoliosis peptidase
Chromosome3
Location3q22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2003-03-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKY_HUMAN

GO terms

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GOName
GO:0005856 cytoskeleton
GO:0008233 peptidase activity
GO:0030018 Z disc

Diseases

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Disease IDSourceNameDescription
617114 OMIMMyopathy, myofibrillar, 7 (MFM7)A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
KYFLNCHPRD15385448 details
KYRNF123BioGRID29676528 details