Relevance to Autism

A de novo nonsense variant in the RAD21L1 gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2012. Targeted sequencing of 536 Chinese ASD probands and 1457 Chinese controls detected two rare inherited loss-of-function variants in the RAD21L1 gene in Chinese ASD probands in Guo et al., 2017. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified RAD21L1 as an ASD candidate gene with a PTADA of 0.00193.

Molecular Function

Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes.

External Links

References