Cat. No. | Product Name | Species | Expression System |
---|---|---|---|
TMPJ-01002 |
SGSH Protein, Human, Recombinant (His)
SGSH,N-Sulphoglucosamine Sulphohydrola... |
Human | HEK293 Cells |
N-Sulphoglucosamine Sulphohydrolase (SGSH) is an important member of the sulfatase family which is involved in the degradation of heparin sulfate. SGSH binds one calcium ion per subunit as a cofactor. SGSH catalyzes N-sulfo-D-glucosamine and H2O to D-glucosamine and sulfate. SGSH deficiency is result in mucopolysaccharidosis type 3A (MPS3A), a recessive lysosomal storage disease characterized by neurological dysfunction but relatively mild somatic manifestations. | |||
TMPY-00368 |
ALR Protein, Human, Recombinant (His)
HPO,ERV1,HERV1,ALR,HSS,HPO2,growth factor, augmente... |
Human | HEK293 Cells |
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder. |