Variant: rs137854542 

    present in Gene: CTSA;NEURL2;SPATA25
    present in Chromosome: 20
    Position on Chromosome: 45891990
    Alleles of this Variant: C/T

rs137854542 in CTSA;NEURL2;SPATA25 gene and GALACTOSIALIDOSIS PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.

PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.