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Immunogen sequence: GGAYVLDDSD GLGREFDGIG AVSGGGATSR LLVNYPEPYR SQILDYLFKP NFGASLHILK VEIGGDGQTT DGTEPSHMHY ALDENYFRGY EWWLMKEAKK RNPNITLIGL PWSFPGWLGK GFDWPYVNLQ LTAYYVVTWI VGAKRYHDLD IDYIGIWNER SYNANYIKIL RKMLNYQGLQ RVKIIASDNL WESISASMLL DAELFKVVDV IGAHYPGTHS AKDAKLTGKK LWSSEDFSTL NSDMGAGCWG RILNQNYING Y
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 3.2.1.46; beta-galactosidase; Galactocerebrosidase; Galactocerebroside beta-galactosidase; Galactosylceramidase; Galactosylceramide beta-galactosidase; galactosylceraminidase; GALCERase; testis tissue sperm-binding protein Li 88E; testis tissue sperm-binding protein Li 89A
基因别名: 2310068B06Rik; A930008M05Rik; AW212969; AW413532; Gacy; GALC; twi; twitcher
UniProt ID: (Human) P54803, (Mouse) P54818
Entrez Gene ID: (Human) 2581, (Rat) 314360, (Mouse) 14420