Relevance to Autism

A de novo nonsense variant in the MLANA gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while transmitted protein-truncating variants (PTVs) in this gene were observed in ASD probands from the Autism Sequencing Consortium and the iHART cohort (De Rubeis et al., 2014; Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified MLANA as an ASD candidate gene with a false discovery rate (FDR) < 0.1.

Molecular Function

Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes.

External Links

References