Kelch like family member 1 (KLHL1)

Kelch-like family member 1 (KLHL1) is a structural and actin-binding protein encoded by the KLHL1 gene. It belongs to a family of proteins containing BTB/POZ, BACK, and Kelch domains, which facilitate protein-protein interactions and actin cytoskeleton organization within brain cells, particularly neurons[2][7]. KLHL1 is predominantly expressed in the central nervous system and is associated with the regulation of neurite outgrowth and neuronal morphology[2][5]. Its principal biological function is the modulation and organization of the actin cytoskeleton. KLHL1 has also been described as a substrate adaptor within ubiquitin ligase complexes, although its roles in these pathways remain incompletely characterized[2][7]. Variants in KLHL1 are associated with certain neurological disorders such as frontotemporal dementia and spinocerebellar ataxia 8, but it is not recognized as a direct disease driver nor a validated target for pharmacological intervention[2].

Other names

Kelch-like protein 1KIAA1490Mayven-related protein 2 (MRP2)FLJ30047MayvenKLHL1