present in Gene: CTSA
present in Chromosome: 20
Position on Chromosome: 45898068
Alleles of this Variant: T/G
rs137854540 in
CTSA gene and
GALACTOSIALIDOSIS
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.