hyperekplexia 2

Summary
Synonym
  • HKPX2
Definition
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
Super Class
autosomal recessive disease hyperekplexia
External Links
Disease Ontology
DOID:0060697
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5621 PRNP prion protein (Kanno blood group)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04156 Major prion protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024