Relevance to Autism

Chettle et al., 2024 reported a case series of seven unrelated probands with de novo heterozygous loss of function or missense variants in the LARP1 gene who presented with a variable neurodevelopmental phenotype that included developmental delay, intellectual disability, hypotonia, and/or behavioral abnormalities including autism spectrum disorder, which was reported in four probands; subsequent studies using immortalized lymphoblasts from a proband with a LARP1 loss of function variant demonstrated reduced LARP1 mRNA and protein levels resulting in reduced rates of aerobic respiration and glycolysis in proband-derived cells. De novo missense variants in the LARP1 gene have also been identified in ASD probands from a cohort of 30 Japanese probands with sporadic ASD, the Autism Sequencing Consortium, and the MSSNG cohort (Hashimoto et al., 2016; Satterstrom et al., 2020; Zhou et al., 2022).

Molecular Function

Enables eukaryotic initiation factor 4E binding activity; nucleic acid binding activity; and ribosomal small subunit binding activity. Involved in several processes, including TORC1 signaling; cellular response to rapamycin; and posttranscriptional regulation of gene expression. Located in cytoplasmic stress granule. Colocalizes with TORC1 complex and polysomal ribosome.

External Links

References