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NEXMIF

Chr Xq13.3

neurite extension and migration factor

Aliases:
XPN, MRX98, KIDLIA
MANE:
ENST00000055682.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Early onset or syndromic epilepsy

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

  • X-linked intellectual disability, Cantagrel type

    0.81
  • Intellectual disability

    0.51
  • hereditary disease

    0.50
  • Seizure

    0.45
  • epilepsy with myoclonic atonic seizures

    0.37
  • X-linked complex neurodevelopmental disorder

    0.37
  • neurodevelopmental disorder

    0.27
  • developmental and epileptic encephalopathy

    0.09
  • Smith-McCort dysplasia 1

    0.04
  • Smith-McCort dysplasia

    0.04

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

Protein function (UniProt)

Neurite extension and migration factor

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1)

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.