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

Gene: NEURL2

Alternate names for this Gene: C20orf163|OZZ|OZZ-E3

Gene Summary: This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: neuralized E3 ubiquitin protein ligase 2

Type of Gene: protein-coding

Gene: SPATA25

Alternate names for this Gene: C20orf165|TSG23|dJ337O18.8

Gene Summary:

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: spermatogenesis associated 25

Type of Gene: protein-coding

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.