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.