ATP7B


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Related to ATP7B: ceruloplasmin

ATP7B

A gene on chromosome 13q14.3 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network.

Molecular pathology
ATP7B mutations are associated with Wilson disease.
References in periodicals archive ?
WD is caused by various mutations within the ATP7B (ATPase 7B, copper transporting protein/enzyme) gene.
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Incidentally, SNPs 3 and 4 in ATP7B alter the restriction sites for BtsCI and AciI, respectively.
In all WD patients, the coding exons 1-21 and the flanking introns of the ATP7B gene were amplified by PCR.
Genetic analysis of ATP7B is the most decisive tool and is considered the only reliable test for family screening of asymptomatic siblings.
Wilson disease (WD) is an autosomal recessive inherited disorder of abnormal copper metabolism related to mutational inactivation of the ATP7B gene.
Direct DNA sequencing of all exons of the ATP7B gene indicated that patients P1-P4 were all apparently homozygous for a known disease-causing mutation, c.
We amplified the coding exons and the flanking introns of the ATP7B gene by PCR using a touch-down approach: 94[degrees]C for 12 min; 10 cycles of 94[degrees]C for 45 s, 66[degrees]C for 45 s (1[degrees]C decrement for each cycle), and 72[degrees]C for 45 s; 30 cycles of 94[degrees]C for 45 s, 60[degrees]C for 45 s, and 72[degrees]C for 45 s; and a final extension at 72[degrees]C for 8 min.
In short, we suggest that genotyping the parents of a WD patient suspected to be homozygous for a mutation and/or genotyping for a marker linked to the disease locus in the patient will unequivocally address the issue of allele dropout without labor-intensive mutation screening of ATP7B.