Peptide sequence: LMTAQEPWSG HYVVESPVWV SAHTTQFTQP GWYYLKTVGH LEKGGSYVAL
Sequence homology: Cow: 93%; Dog: 100%; Guinea Pig: 86%; Horse: 100%; Human: 100%; Mouse: 100%; Pig: 100%; Rabbit: 100%; Rat: 100%
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
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Protein Aliases: casein kinase 2, beta polypeptide pseudogene; Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; galactosylceramidase (Krabbe disease); galactosylceramidase-like; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALCERase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A
Gene Aliases: 2310068B06Rik; A930008M05Rik; AW212969; AW413532; BOS_11182; Gacy; GALC; twi; twitcher