GLB1

Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene.3THC, 3THD, 3WEZ, 3WF0, 3WF1, 3WF2, 3WF3, 3WF4272012091ENSG00000170266ENSMUSG00000045594P16278P23780NM_001135602NM_000404NM_001079811NM_001317040NM_009752NP_000395NP_001073279NP_001129074NP_001303969NP_033882GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers.The RNA transcript of the GLB1 gene is alternatively spliced and produces 2 mRNAs. The 2.5-kilobase transcript encodes the beta-galactosidase enzyme of 677 amino acids. The alternative 2.0-kb mRNA encodes a beta-galactosidase-related protein (S-Gal) that is only 546 amino acids long and that has no enzymatic activity. The S-Gal protein does bind elastin and fragments of elastin that are generated by proteolysis.