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: 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

rs786205670 in NEURL2;CTSA gene and Hydrops Fetalis, Non-Immune PMID 26036949 2015 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.