产品名称
PLOD1 Rabbit Polyclonal Antibody
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/5351
Human Swissprot No.
Q02809
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q02809/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/18822
Mouse Swissprot No.
Q9R0E2
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9R0E2
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q63321
免疫原
Synthesized peptide derived from human PLOD1 AA range: 551-601
特异性
This antibody detects endogenous levels of PLOD1 at Human/Mouse/Rat
稀释度
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015],
细胞定位
Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side.
功能
catalytic activity:Procollagen L-lysine + 2-oxoglutarate + O(2) = procollagen 5-hydroxy-L-lysine + succinate + CO(2).,cofactor:Ascorbate.,cofactor:Iron.,disease:Defects in PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment.,disease:Defects in PLOD1 are the cause of Nevo syndrome [MIM:601451]. This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity.,function:Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links.,similarity:Contains 1 PKHD (prolyl/lysyl hydroxylase) domain.,subunit:Homodimer.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
