gana-1 encodes a protein with homology to both human alpha-galactosidase (alpha-GAL) and alpha-N-acetylgalactosaminidase (alpha-NAGA) enzymes; these dual enzymatic activities were detected in mixed culture homogenates; immunofluorescence studies show cytoplasmic expression of GANA-1 in body wall muscle and intestinal cells and in coelomocytes. the human gene alpha-galactosidase B (GALB; OMIM:104170), when mutated leads to Schindler disease, Kanzaki disease, or NAGA deficiency.
Predicted to enable alpha-galactosidase activity. Involved in glycoside catabolic process. Located in cytoplasm. Expressed in coelomocyte. Used to study Fabry disease. Human ortholog(s) of this gene implicated in several diseases, including Fabry disease; Schindler disease (multiple); and angiokeratoma. Is an ortholog of human GLA (galactosidase alpha) and NAGA (alpha-N-acetylgalactosaminidase).
Inferred by orthology to human genes with DO annotation (HGNC:7631)
Disease_relevance
Elegans gana-1 is orthologous to the human NAGA and GALA genes; the human gene Alpha-N-acetylgalactosaminidase (NAGA, also known as GALB) is a lysosomal glycohydrolase, that cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates; mutations in GALB have been associated with Schindler disease type I and III and Kanzaki disease; mutations in human alpha-galactosidase (GLA), a lysosomal hydrolase are associated with Fabry disease.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.