ID   Me32a
AC   CVCL_UT42
DR   Wikidata; Q95988211
RX   PubMed=9813047;
RX   PubMed=12385784;
RX   PubMed=20372979;
CC   Sequence variation: Mutation; HGNC; 869; ATP7A; Unexplicit; 4bp deletion within exon 6; Zygosity=Unspecified (PubMed=12385784).
DI   NCIt; C75486; Menkes disease
DI   ORDO; Orphanet_565; Menkes disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 21-03-23; Version: 6
//
RX   PubMed=9813047; DOI=10.1074/jbc.273.47.31375;
RA   La Fontaine S., Firth S.D., Camakaris J., Englezou A.,
RA   Theophilos M.B., Petris M.J., Howie M., Lockhart P.J., Greenough M.,
RA   Brooks H., Reddel R.R., Mercer J.F.B.;
RT   "Correction of the copper transport defect of Menkes patient
RT   fibroblasts by expression of the Menkes and Wilson ATPases.";
RL   J. Biol. Chem. 273:31375-31380(1998).
//
RX   PubMed=12385784; DOI=10.1016/S0925-4439(02)00164-3;
RA   Lockhart P.J., La Fontaine S., Firth S.D., Greenough M., Camakaris J.,
RA   Mercer J.F.B.;
RT   "Correction of the copper transport defect of Menkes patient
RT   fibroblasts by expression of two forms of the sheep Wilson ATPase.";
RL   Biochim. Biophys. Acta 1588:189-194(2002).
//
RX   PubMed=20372979; DOI=10.1007/s10534-010-9332-2;
RA   Southon A., Palstra N., Veldhuis N., Gaeth A., Robin C., Burke R.,
RA   Camakaris J.;
RT   "Conservation of copper-transporting P(IB)-type ATPase function.";
RL   BioMetals 23:681-694(2010).
//