hereditary spastic paraplegia 18

Summary
Synonym
  • IDMDC
  • SPG18
  • autosomal recessive spastic paraplegia 18
  • autosomal recessive spastic paraplegia type 18
  • intellectual disability, motor dysfunction and joint contractures
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11160 ERLIN2 ER lipid raft associated 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O94905 Erlin-2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.4.0

Last updated: December 8, 2025