CRMP1collapsin response mediator protein 1

Relevance to Autism

De novo variants in the CRMP1 gene have been reported to cause a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and behavioral abnormalities; autism spectrum disorder was diagnosed in an individual with a de novo missense variant that was experimentally shown to impair CRMP1B homo-oligomerization and attenuate neurite outgrowth in mouse cortical neurons in Ravindran et al., 2022 and in an individual with a de novo frameshift variant in Liu et al., 2024. Additional de novo variants in the CRMP1 gene, including two de novo missense variants that were not reported in control databases and were predicted to be damaging by CADD, have been reported in ASD probands from the Simons Simplex Collection, the SPARK cohort, the Autism Sequencing Consortium, and a Korean ASD cohort (Satterstrom et al., 2020; Zhou et al., 2022; Kim et al., 2024). Several studies have previously reported that maternal autoantibody reactivity to CRMP1 was associated with elevated severity of ASD (Braunschweig et al., 2013; Ramirez-Celis et al., 2021; Ramirez-Celis et al., 2022).

Molecular Function

This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development.

External Links

Gene CardOpen Targets PlatformgnomAD browserPubMed

Human

Entrez GeneOMIMUniProtHumanBaseVariCarta

Mouse

Entrez GeneMouse Genome InformaticsAllen Brain Atlas

SFARI Genomic Platforms

GPF browser SFARI genome browser