产品名称
ALG1 Rabbit Polyclonal Antibody
基因名称
ALG1 HMAT1 HMT1 PSEC0061 UNQ861/PRO1870
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/56052
Human Swissprot No.
Q9BT22
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9BT22/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/208211
Mouse Swissprot No.
Q921Q3
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q921Q3
免疫原
Synthesized peptide derived from human ALG1 AA range: 180-230
特异性
This antibody detects endogenous levels of ALG1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008],
细胞定位
Endoplasmic reticulum membrane ; Single-pass type II membrane protein .
功能
catalytic activity:GDP-mannose + chitobiosyldiphosphodolichol = GDP + beta-1,4-D-mannosylchitobiosyldiphosphodolichol.,disease:Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]. 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.,function:Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.,online information:GlycoGene database,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 1 family.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
