Annotation Detail
Information
- Associated Genes
- GLB1
- Associated Variants
-
GLB1 p.Ile51Thr (p.I51T)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Ile51Thr (p.I51T) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 ) - Associated Disease
- Gangliosidosis GM1
- Source Database
- DisGeNET
- Description
- In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T).
- Pubmed
- 24737316
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.149355448271329
- Year of publication
- 2014
Drugs