gana-1

Caenorhabditis elegans

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).

Gla

Rattus norvegicus

Enables alpha-galactosidase activity and galactoside binding activity. Involved in several processes, including glycosphingolipid catabolic process; platelet aggregation; and regulation of axon diameter. Predicted to be located in Golgi apparatus; extracellular space; and lysosome. Predicted to be active in cytoplasm. Used to study Fabry disease and lysosomal storage disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha); PARTICIPATES IN Fabry disease pathway; galactose metabolic pathway; galactosemia pathway; INTERACTS WITH 6-propyl-2-thiouracil; amphetamine; bisphenol A.

LINC00630

Homo sapiens

ASSOCIATED WITH Autism; autistic disorder; deafness-intellectual disability, Martin-Probst type syndrome; INTERACTS WITH acrylamide; aflatoxin B1; phenylmercury acetate

Gla

Mus musculus

PHENOTYPE: Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fabry disease. [provided by MGI curators]

Acer1

Homo sapiens

ENCODES a protein that exhibits N-acylsphingosine amidohydrolase activity; INVOLVED IN cell differentiation; cellular response to calcium ion; ceramide catabolic process; PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; FOUND IN endoplasmic reticulum; INTERACTS WITH 2-hydroxypropanoic acid; aflatoxin B1; arsane

Cerk

Rattus norvegicus

Predicted to enable ceramide kinase activity and magnesium ion binding activity. Predicted to be involved in ceramide metabolic process. Predicted to be located in plasma membrane. Orthologous to human CERK (ceramide kinase); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-diaminodiphenylmethane; 6-propyl-2-thiouracil.

RAB40AL

Homo sapiens

ENCODES a protein that exhibits GTP binding (inferred); GTPase activity (inferred); INVOLVED IN intracellular signal transduction (inferred); protein ubiquitination (inferred); ASSOCIATED WITH Autism; autistic disorder; deafness-intellectual disability, Martin-Probst type syndrome; FOUND IN cytoplasm; mitochondrion; INTERACTS WITH 17beta-estradiol; benzo[a]pyrene; valproic acid

Galc

Rattus norvegicus

Predicted to enable galactosylceramidase activity. Predicted to be involved in galactosylceramide catabolic process. Predicted to act upstream of or within myelination. Predicted to be active in lysosome. Human ortholog(s) of this gene implicated in Krabbe disease. Orthologous to human GALC (galactosylceramidase); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; INTERACTS WITH 1-naphthyl isothiocyanate; bisphenol A; lidocaine.

Plpp1

Rattus norvegicus

Enables diacylglycerol diphosphate phosphatase activity and lipid phosphatase activity. Involved in phospholipid dephosphorylation; phospholipid metabolic process; and sphingolipid metabolic process. Located in plasma membrane. Orthologous to human PLPP1 (phospholipid phosphatase 1); PARTICIPATES IN D-glycericacidemia pathway; Fabry disease pathway; familial lipoprotein lipase deficiency pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.

Ugt8

Rattus norvegicus

Enables N-acylsphingosine galactosyltransferase and UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity. Involved in galactosylceramide biosynthetic process and response to immobilization stress. Located in endoplasmic reticulum. Orthologous to human UGT8 (UDP glycosyltransferase 8); PARTICIPATES IN Fabry disease pathway; Gaucher's disease pathway; Krabbe disease pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 6-propyl-2-thiouracil.