Categories: Lysosomal storage disease

Possible human homologue (MIM number): 610008 (gene)

Cross-species summary: This phene was initially called 'neuronal ceroid lipofusconosis, 4A' (NCL4) and included information about a lysosomal storage disease in dogs, which was caused by a mutation in the ARSG gene. Historically, NCL4 in humans related to variants of NCL with adult onset. In humans, adult onset variants of NCL include Kufs disease (or CLN4A - now to be known to be caused by mutations in the CLN6 gene) and Parry disease (or CLN4B - now to be known to be caused by mutations in the DNAJC5 gene). However, more recent findings suggest that this phene, caused by a mutation in the ARSG gene, is more likely a mucopolysaccharidosis.

Species in which this phene is found:
dog (Canis lupus familiaris)