Gene: TMPPE

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.3

Description of this Gene: transmembrane protein with metallophosphoesterase domain

Type of Gene: protein-coding

Gene: GLB1

Alternate names for this Gene: EBP|ELNR1|MPS4B

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.3

Description of this Gene: galactosidase beta 1

Type of Gene: protein-coding

rs587776525 in TMPPE;GLB1 gene and Gangliosidosis GM1 PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 29160035 2018 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

PMID 8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

rs587776525 in TMPPE;GLB1 gene and Gangliosidosis, Generalized GM1, Type 1 (disorder) PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

rs587776525 in TMPPE;GLB1 gene and Mucopolysaccharidosis type IVB PMID 8198123 1994 Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.

PMID 8199591 1994 Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

PMID 29160035 2018 Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

PMID 21497194 2011 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.