| Modification Notes |
KLHL1 (kelch-like protein 1) is a 748 amino acid protein that is the homolog of the Drosophila kelch protein. Localized to the cytoskeleton, KLHL1 contains six kelch repeats and one BTB (POZ) domain. The BTB (Broad-Complex, Tramtrack and Bric a brac) domain, also known as the POZ (Poxvirus and Zinc finger) domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. KLHL1 is highly expressed in brain where it acts as an actin-organization protein, possibly playing a role in the modulation of neurite outgrowth. KLHL1 expression has been shown to be downregulated by spinocerebellar ataxia type 8 (SCA8) protein, which then leads to SCA8 neuropathogenesis, a disease that is characterized by limb and truncal ataxia, ataxic dysarthria and horizontal nystagmus. |