CRMP1
Description
The CRMP1 (collapsin response mediator protein 1) is a protein-coding gene located on chromosome 4.
CRMP1, encoded by the CRMP1 gene, is a human protein belonging to the CRMP family. It is exclusively expressed in the nervous system and is believed to participate in the semaphorin signal transduction pathway, specifically in semaphorin-induced growth cone collapse during neural development. Alternative splicing creates multiple transcript variants. CRMP1 mediates reelin signaling during cortical neuronal migration. Mice lacking CRMP1 exhibit impaired long-term potentiation, spatial learning, and memory. The CRMP1 gene overlaps with another gene called EVC. CRMP1 interacts with DPYSL2.
CRMP1 is essential for signal transduction by class 3 semaphorins, leading to cytoskeletal remodeling. It plays a key role in axon guidance, acting downstream of SEMA3A to release FLNA from F-actin, causing actin cytoskeleton rearrangement and growth cone collapse. CRMP1 is involved in invasive growth and cell migration. It may also participate in cytokinesis.
CRMP1 is also known as CRMP-1, DPYSL1, DRP-1, DRP1, ULIP-3.
Associated Diseases
- Huntington disease
- Mobius syndrome
- nodular neuronal heterotopia
- autosomal recessive primary microcephaly
- Joubert syndrome
- neutropenia, severe congenital, 9, autosomal dominant
- occipital pachygyria and polymicrogyria
- type 2 diabetes mellitus
- lissencephaly due to LIS1 mutation
