NA13206

NA13206 DNA from Fibroblast

Description:

GALACTOSIALIDOSIS; GSL

Affected:

Yes

Sex:

Male

Age:

11 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Quantity

10 µg

Quantitation Method

Please see our FAQ

Cell Type

Fibroblast

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Relation to Proband

proband

Confirmation

Biochemical characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Mild cognitive impairment; progressive pain; unusual mitochondria in muscle biopsy; psychomotor delay; dysplastic hips, joints, & epiphyseal processes; scoliosis; deficient fibroblast betagalactosidase & alpha-neuraminidase act

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

exo-alpha-sialidase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 14903

Gene Cards

PPGB

Gene Ontology

GO:0004186 carboxypeptidase C activity

GO:0005478 intracellular transporter activity

GO:0005764 lysosome

GO:0005783 endoplasmic reticulum

GO:0006508 proteolysis and peptidolysis

GO:0006886 intracellular protein transport

GO:0008047 enzyme activator activity

GO:0016787 hydrolase activity

NCBI Gene

Gene ID:5476

NCBI GTR

256540 GALACTOSIALIDOSIS; GSL

OMIM

256540 GALACTOSIALIDOSIS; GSL

Omim Description

BETA-GALACTOSIDASE 2; GLB2, INCLUDED

CATHEPSIN A, DEFICIENCY OF

GALACTOSIALIDOSIS; GSL

GOLDBERG SYNDROME

LYSOSOMAL PROTECTIVE PROTEIN, DEFICIENCY OF

NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY

NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION; NGBE

PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY; PPCA DEFICIENCYBETA-GALACTOSIDASE PROTECTIVE PROTEIN; PPGB, INCLUDED

PROTECTIVE PROTEIN/CATHEPSIN A; PPCA, INCLUDED CARBOXYPEPTIDASE L,INCLUDED

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD