Gene: ATP7B

Alternate names for this Gene: PWD|WC1|WD|WND

Gene Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.3

Description of this Gene: ATPase copper transporting beta

Type of Gene: protein-coding

Gene: ALG11

Alternate names for this Gene: CDG1P|GT8

Gene Summary: This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19.

Gene is located in Chromosome: 13

Location in Chromosome : 13q14.3

Description of this Gene: ALG11 alpha-1,2-mannosyltransferase

Type of Gene: protein-coding

rs369488210 in ATP7B;ALG11 gene and Hepatolenticular Degeneration PMID 15024742 2004 Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

PMID 19118915 2009 Genotype-phenotype correlation in Italian children with Wilson's disease.

PMID 19371217 2009 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

PMID 23982005 2013 Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.

PMID 25497208 2015 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

PMID 20967755 2010 Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.

PMID 22677543 2012 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

PMID 23518715 2013 A genetic study of Wilson's disease in the United Kingdom.

PMID 23962630 2014 Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

PMID 15967699 2006 Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

PMID 29649982 2018 Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

PMID 26752957 2016 Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.

PMID 23486543 2013 The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

PMID 18371106 2008 Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

PMID 10502776 1999 Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

rs111871296 in ATP7B;ALG11 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs111871296 in ATP7B;ALG11 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.