Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 300011 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: X-linked

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2016

Cross-species summary: Excessive copper deposition in the body due to variants in the ATP7B gene has been named Wilson disease (see OMIA:001071 : Wilson disease). Genetic modifiers have been reported to partly protect against copper accumulation in animals with Wilson disease.

Mapping: Guevara-Fujita et al (1996) mapped the canine ATP7A gene to the X chromosome.

Molecular basis: Fieten et al. (2016): "the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation" Haywood et al. (2023) “Liver and DNA samples from 24 COMMD1 affected and 10 unaffected Bedlingtons were assessed for copper and genetic variants.” The authors tested for variants in COMMD1 (OMIA variant ID:643), ATP7B (OMIA variant ID:106), ATP7A (OMIA variant ID:107) and 2 SNPs in ABCA12 (Haywood et al., 2016). "All dogs only carried the ATP7A:c.980C allele and were therefore negative for the protective mutation."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: