产品名称
C1QT5 Rabbit Polyclonal Antibody
基因名称
C1QTNF5 CTRP5 UNQ303/PRO344
蛋白名称
Complement C1q tumor necrosis factor-related protein 5
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q9BXJ0
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9BXJ0/entry
Mouse Swissprot No.
Q8K479
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q8K479
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941Q5FVH0
免疫原
Synthesized peptide derived from part region of human protein
特异性
C1QT5 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013],
组织表达
Brain,Fetal brain,Uterus,
功能
developmental stage:Expressed in fetal brain.,disease:Defects in C1QTNF5 are a cause of late-onset retinal degeneration (LORD) [MIM:605670]. LORD is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.,disease:Defects in MFRP are the cause of microphthalmia MFRP-related (MCOPMFRP) [MIM:611040]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. MCOPMFRP is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen.,disease:Defects in MFRP are the cause of nanophthalmos 2 (NNO2) [MIM:609549]. NNO2 is a rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.,function:May play a role in eye development.,similarity:Contains 1 C1q domain.,similarity:Contains 1 collagen-like domain.,similarity:Contains 1 FZ (frizzled) domain.,similarity:Contains 2 CUB domains.,similarity:Contains 2 LDL-receptor class A domains.,tissue specificity:Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.