Gene: CTSA
Alternate names for this Gene: GLB2|GSL|NGBE|PPCA|PPGB
Gene Summary: This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis.
Gene is located in Chromosome: 20
Location in Chromosome : 20q13.12
Description of this Gene: cathepsin A
Type of Gene: protein-coding
rs137854544 in
CTSA gene and
Aortic Valve Stenosis
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
rs137854544 in
CTSA gene and
Coarse facial features
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
rs137854544 in
CTSA gene and
Congenital pectus excavatum
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
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.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 26259553 2016 Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
PMID 16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
PMID 24779613 2014 Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis.
rs137854544 in
CTSA gene and
Generalized hypotonia
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: 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.
rs137854544 in
CTSA gene and
Kyphosis deformity of spine
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
rs137854544 in
CTSA gene and
Mild Mental Retardation
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
rs137854544 in
CTSA gene and
Mild conductive hearing impairment
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
rs137854544 in
CTSA gene and
Short stature
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 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.