Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 250790 (trait) , 613218 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: yes

Key variant known: no

Molecular basis: McKenna et al. (2014) report a Pit Bull mix dog with congenital methemoglobinemia with normal cytochrome b ₅ reductase  activity. Resequencing of the candidate genes CYB5R3 and CYB5A in the affected dog and variant analysis identified two variants in CYB5A: 68 G>A, p.Ser23Asn and 'a heterozygous 37 bp promoter deletion at −324_−287 ... (chr1:5070633‐5070670) ... ." The authors concluded that it "is therefore likely that one or both of these CYB5A variants contributed to decreased b5 protein expression and impaired methemoglobin reduction in this dog. ... Further functional characterization of both novel CYB5A variants is warranted."

Breed: Mixed Breed (Dog) (VBO_0200902).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: