KEGG   VARIANT: 2720v1
Entry
2720v1                      Variant                                
Name
GLB1 deficiency
Type
Loss of function
Gene
GLB1  galactosidase beta 1 [KO:K12309]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611458
Network
nt06012  Glycosaminoglycan degradation
nt06014  Sphingolipid degradation
Disease
H00123  Mucopolysaccharidosis type IV
H00281  GM1 gangliosidosis
Reference
  Authors
Caciotti A, Garman SC, Rivera-Colon Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A
  Title
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
  Journal
Biochim Biophys Acta 1812:782-90 (2011)
DOI:10.1016/j.bbadis.2011.03.018
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