Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 124020 (gene) , 609535 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Species-specific name: Diclofenac toxicity

Species-specific description: Oluwasegun Adawaren et al. (2023): "The unintended environmental exposure of vultures to diclofenac has resulted in the deaths of millions of old-world vultures on the Asian subcontinent. ... toxicity has been ... associated with a long half-life of elimination and zero order metabolism ... ."

Molecular basis: Oluwasegun Adawaren et al. (2023) "using whole genome sequencing and de-novo transcriptome alignment, the vulture CYP2C19 open reading frame was identified through Splign analysis. The result sequence analysis revealed the presence of a premature stop codon on open reading frame 7. ... The defect was also conserved across the eight non-related vultures tested. From these results, [the authors] conclude that the sensitivity of the old-world vultures to diclofenac is due to the non-expression of a viable CYP2C19 enzyme system."

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

Associated gene: