Gene: ATP7A

Alternate names for this Gene: DSMAX|MK|MNK|SMAX3

Gene Summary: This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.1

Description of this Gene: ATPase copper transporting alpha

Type of Gene: protein-coding

Gene: PGK1

Alternate names for this Gene: HEL-S-68p|MIG10|PGKA

Gene Summary: The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.1

Description of this Gene: phosphoglycerate kinase 1

Type of Gene: protein-coding

rs72554642 in ATP7A;PGK1 gene and Menkes Kinky Hair Syndrome PMID 10319589 1999 Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.

PMID 10401004 1999 Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

PMID 10079817 1999 Mutation spectrum of ATP7A, the gene defective in Menkes disease.

PMID 8981948 1997 Identification of point mutations in 41 unrelated patients affected with Menkes disease.

PMID 22992316 2012 The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

PMID 21667063 2012 The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

PMID 15981243 2005 Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

PMID 7977350 1994 Diverse mutations in patients with Menkes disease often lead to exon skipping.

PMID 11241493 2001 ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

PMID 11350187 2001 Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis.

PMID 21487442 2011 Clinical utility gene card for: Menkes disease.

PMID 21667063 2012 To elucidate the molecular consequences of the ATP7A mutations, various mutations in ATP7A associated with distinct phenotypes of MD (L873R, C1000R, N1304S, and A1362D) were analyzed in detail.