ALG8
Reaktivität: Human
WB, ELISA
Wirt: Kaninchen
Polyclonal
APC
Applikationshinweise
Optimal working dilution should be determined by the investigator.
Beschränkungen
Nur für Forschungszwecke einsetzbar
Rekonstitution
Add 50 μL of distilled water to a final concentration of 1 mg/mL.
Handhabung
Avoid repeated freezing and thawing.
Lagerung
4 °C/-20 °C
Informationen zur Lagerung
Store lyophilized at 2-8 °C or at -20 °C long term. After reconstitution store the antibody undiluted at 2-8 °C for up to one month or in aliquots at -20 °C long term.
ALG8 adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation and transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol. Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.Synonyms: 3-glucosyltransferase, Asparagine-linked glycosylation protein 8, Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase, HUSSY-02, Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1