Entity Details

Primary name KBTBD13
Entity type gene
Source Source Link

Details

PrimaryID390594
RefseqGeneNG_021411
SymbolKBTBD13
Namekelch repeat and BTB domain containing 13
Chromosome15
Location15q22.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKBTBD_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0007015 actin filament organization
GO:0014728 regulation of the force of skeletal muscle contraction
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification
GO:0051015 actin filament binding
GO:0090076 relaxation of skeletal muscle

Diseases

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Disease IDSourceNameDescription
609273 OMIMNemaline myopathy 6 (NEM6)A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
KBTBD13CUL3BioGRID22542517 details