Galactosidase, Beta-1

Alternative Names

  • GLB1
  • Beta-Galactosidase-1
  • Elastin-Binding Protein
  • EBP
  • S-GAL
  • Elastin Recepror 1

Associated Diseases

GM1-Gangliosidosis, Type I
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OMIM Number

611458

NCBI Gene ID

2720

Uniprot ID

P16278

Length

100,623 bases

No. of Exons

18

No. of isoforms

3

Protein Name

Beta-Galactosidase

Molecular Mass

76075 Da

Amino Acid Count

677

Genomic Location

chr3:32,996,607-33,097,229

Gene Map Locus
3p21.33

Description

The GLB1 gene encodes for acidic beta-galactosidase-1 enzyme, a lysosomal hydrolase which catalyzes the removal of terminal beta linked galactose from ganglioside GM1. It has also a catalytic effect on other glycoconjugates such as oligosaccharides, and the mucopolysaccharide keratan sulfate. Therefore, the absence or reduction of the enzyme activity causes the accumulation of the glycoconjugates and their derivatives, including GM1 ganglioside, its derivative, asialo- and lyso-GM1 ganglioside, and keratan sulfate in all body tissues, especially in the central and peripheral nervous system and are also excreted in high amounts through the urine. All these effects are seen in patients affected with GM1 gangliosidosis disease. Also, the deficiency of this enzyme causes Morquio disease type B. The main substrate that accumulates in GM1 gangliosidosis patients is the sphingolipid ganglioside GM1, whereas the glycosaminoglycan keratin sulfate is the main substrate that accumulates in Morquio B patients.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000404.3:c.1336G>TUnited Arab EmiratesNC_000003.12:g.33018459C>APathogenicGM1-Gangliosidosis, Type ING_009005.1:g.83744G>T; NM_000404.3:c.1336G>T; NP_000395.2:p.Ala446Ser
NM_000404.4:c.145C>TSaudi Arabiachr3:33072644Likely PathogenicLikely PathogenicGM1-Gangliosidosis, Type ING_009005.1:g.29559C>T; NM_000404.4:c.145C>T; NP_000395.3:p.Arg49Cys72555358923
NM_000404.4:c.171C>GSaudi Arabiachr3:33072618Likely PathogenicPathogenicGM1-Gangliosidosis, Type ING_009005.1:g.29585C>G; NM_000404.4:c.171C>G; NP_000395.3:p.Tyr57Ter39812335092900
NM_000404.4:c.1768C>TUnited Arab EmiratesNC_000003.12:g.32997311G>APathogenicPathogenicGM1-Gangliosidosis, Type ING_009005.1:g.104892C>T; NM_000404.4:c.1768C>T; NP_000395.3:p.Arg590Cys794727165194596
NM_000404.4:c.245+1G>ASaudi Arabiachr3:33072543Likely PathogenicLikely PathogenicGM1-Gangliosidosis, Type ING_009005.1:g.29660G>A; NM_000404.4:c.245+1G>A778423653417873
NM_000404.4:c.451G>TUnited Arab EmiratesNC_000003.12:g.33068236C>APathogenicLikely Pathogenic, PathogenicGM1-Gangliosidosis, Type ING_009005.1:g.33967G>T; NM_000404.4:c.451G>T; NP_000395.3:p.Asp151Tyr3755823741300015
NM_000404.4:c.914+4A>GPalestine; United Arab...NC_000003.12:g.33051879T>CLikely Pathogenic, PathogenicGM1-Gangliosidosis, Type ING_009005.1:g.50324A>G; NM_000404.4:c.914+4A>G; NP_000395.3:p.?
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