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The mammalian Kelch like 1 (KLHL1) was initially discovered as a homolog to the Drosophila Kelch gene that is highly expressed in several brain tissues. The predicted protein domain structure of KLHL1 is characteristic of a number of proteins that bind actin, form dimers, and often act as actin organizing proteins. Based on the presence of anti sense RNA that spans the transcription and translation start sites as well as the first splice site of KLHL1 in brain tissue of individuals suffering from the neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8), it has been suggested that KLHL1 is involved in this disease and that regulation of KLHL1 protein may be affected by antisense RNA expression.Tissue specificity: Highly expressed in brain.
