hereditary spherocytosis type 4

Summary
Synonym
  • HS4
  • SPH4
  • hereditary spherocytosis 4
Definition
A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31.
Super Class
autosomal dominant disease hereditary spherocytosis
Disease Ontology
DOID:0110919
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
20533 Slc4a1 solute carrier family 4 (anion exchanger), member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q53ZN9 Anion exchange 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: December 8, 2025