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CRMP1

Chr 4p16.2

collapsin response mediator protein 1

Aliases:
DRP-1, DPYSL1
MANE:
ENST00000324989.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.34
  • alcohol drinking

    0.29
  • stroke disorder

    0.29
  • acute tonsillitis

    0.24
  • pituitary gland disorder

    0.23
  • neurodevelopmental disorder

    0.22
  • Intellectual disability

    0.19
  • placental retention

    0.10
  • musculoskeletal system disorder

    0.09
  • shoulder fracture

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dihydropyrimidinase-related protein 1

Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton (PubMed:25358863). Plays a role in axon guidance (PubMed:25358863). During the axon guidance process, acts downstream of SEMA3A to promote FLNA dissociation from F-actin which results in the rearrangement of the actin cytoskeleton and the collapse of the growth cone (PubMed:25358863). Involved in invasive growth and cell migration (PubMed:11562390). May participate in cytokinesis (PubMed:19799413)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.