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GENATLAS PHENOTYPE
last update : 12/06/2006
Symbol ACG1B
Location 5q33.1
Name achondrogenesis IB
Other name(s) achondrogenesis, Fraccaro type
Corresponding gene SLC26A2
Main clinical features
  • lethal dwarfism, with impaired synthesis of sulfated proteoglycans in fibroblast cultures from the patient
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name sulfate transporter (SLC26A2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein truncating mutations or substitution within transmembrane domains, null mutations on both alleles
    Remark(s)