Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 24-03-2009
Symbol EL4
Location 17q21-q22
Name hereditary elliptocytosis, 4
Other name(s)
  • hereditary ovalocytosis
  • southeast asian ovalocytosis
    • Corresponding gene SLC4A1
    Other symbol(s) EPB3, EL5, HE4
    Main clinical features
  • oval-shaped red cells
  • no or minimal haemolysis
    • Genetic determination autosomal dominant
    Prevalence 5 to 25 percent in endemic malaria areas
    Function/system disorder hematology
    Type disease
    Gene product
    Name erythrocyte surface protein, band 3 (EPB3, SLC4A1); band 3 is the major glycoprotein of the erythrocyte membrane
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     only 1 mutation identified: a genomic deletion of 27 bp encoding aa 400-408
    Remark(s) very common in malaria endemic areas
    Genotype/Phenotype correlations only heterozygotes have been identified suggesting that homozygosity may lead to embryonic or fetal lethality