产品名称
MAN1 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/23592
Human Swissprot No.
Q9Y2U8
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y2U8/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/380664
Mouse Swissprot No.
Q9WU40
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q9WU40
免疫原
Synthesized peptide derived from human MAN1 AA range: 61-111
特异性
This antibody detects endogenous levels of MAN1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009],
组织表达
Heart, brain, placenta, lung, liver and skeletal muscle.
细胞定位
Nucleus inner membrane ; Multi-pass membrane protein .
功能
disease:Defects in LEMD3 are a cause of melorheostosis [MIM:155950]. Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.,disease:Defects in LEMD3 are the cause of Buschke-Ollendorff syndrome (BOS) [MIM:166700]; also known as dermatoosteopoikilosis or disseminated dermatofibrosis with osteopoikilosis or dermatofibrosis lenticularis disseminata with osteopoikilosis or osteopathia condensans disseminata. BOS refers to the association of osteopoikilosis with disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Both elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.,similarity:Contains 1 LEM domain.,tissue specificity:Heart, brain, placenta, lung, liver and skeletal muscle.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
