In other species: emu , dog , domestic cat , taurine cattle

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2012

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Molecular basis: A Genome-Wide Association Study (GWAS) for this disorder led Walker et al. (2012) to a region on chromosome OAR19 which is homologous to the region of human chromosome HSA3 that includes the candidate gene for this disorder, namely GLB1 which encodes β-galactosidase. Subsequent sequencing of the candidate gene by the same authors identified "a G to T base pair substitution mutation in exon 6 of ovine GLB1 causing a cysteine to phenylalanine amino acid substitution". Ahern-Rindell (2018) reported what could be the same variant: "A missence mutation has been found in exon 6 of the affected sheep’s beta-gal gene resulting in the loss of a cysteine residue possibly leading to the synthesis of an altered structural beta-gal but with detectable levels of protein product confirmed by Western Blotting."

Breed: Romney Marsh (Sheep) (VBO_0001582).
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: