Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene. The GLB1 protein is a beta-galactosidase that cleaves...
16 KB (1,882 words) - 11:53, 16 May 2024
malfunction in the GALNS gene, while Type B involves a malfunction of the GLB1 gene.[citation needed] The treatment for Morquio syndrome consists of prenatal...
10 KB (1,019 words) - 15:04, 27 October 2024
galactosidase, beta 1 Identifiers Symbol GLB1 Alt. symbols SA-β-Gal NCBI gene 2720 HGNC 4298 OMIM 611458 RefSeq NM_000404 UniProt P16278 Other data EC...
6 KB (584 words) - 23:19, 20 October 2024
galactosidase, beta 1 Identifiers Symbol GLB1 Alt. symbols ELNR1 NCBI gene 2720 HGNC 4298 OMIM 230500 RefSeq NM_000404 UniProt P16278 Other data Locus...
26 KB (3,025 words) - 14:05, 23 August 2024
stature, motor dysfunction 1 in 75,000 MPS IVB Morquio syndrome B 253010 GLB1 3p22.3 β-galactosidase Keratan sulfate MPS V See MPS IS (Scheie syndrome)...
27 KB (3,047 words) - 15:03, 27 October 2024
(1q31) P Miller-Dieker syndrome 17p13.3 D 1:100,000 Morquio syndrome GALNS, GLB1 1:200,000-300,000 Mowat–Wilson syndrome ZEB2 (2) Muenke syndrome FGFR3 1:30...
42 KB (983 words) - 18:14, 6 October 2024
usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes...
10 KB (1,077 words) - 14:41, 12 October 2024
HGNC:23217 Q9NS71 6271 GKN2 HGNC:24588 Q86XP6 6272 GLA HGNC:4296 P06280 6273 GLB1 HGNC:4298 P16278 6274 GLB1L HGNC:28129 Q6UWU2 6275 GLB1L2 HGNC:25129 Q8IW92...
277 KB (17 words) - 18:41, 6 October 2024
(EC 3.2.1.23). Mammalian beta-galactosidase is a lysosomal enzyme (gene GLB1) which cleaves the terminal galactose from gangliosides, glycoproteins, and...
4 KB (357 words) - 21:19, 6 August 2023
Triticeae may be involved but the gluten protein is a type of globulin (Glb1). Recent studies indicate a combination of DQ2.5 and DQ8 (both acid peptide...
33 KB (3,380 words) - 17:14, 6 July 2024