rs2125442941

This variant is located in the GLB1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Mucopolysaccharidosis, MPS-IV-B;GM1 gangliosidosis

About GLB1

This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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