靶标:
GBA3
产品别名:
CBG; CBGL1; GLUC; KLRP; GBA3; glucosylceramidase beta 3 (gene/pseudogene); glucosylceramidase beta 3 (gene/pseudogene); cytosolic beta-glucosidase; cytosolic GCase; cytosolic beta-glucosidase-like protein 1; cytosolic galactosylceramidase; cytosolic glucosylceramidase; cytosolic glycosylceramidase; glucosidase beta acid 3; glucosidase, beta, acid 3 (cytosolic); klotho-related protein; β葡萄糖苷酶3;
背景信息:
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013],