Reactive species
Human;Rat;Mouse;
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from human MFRP
Specificity
This antibody detects endogenous levels of human MFRP
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
IHC-p 1:50-200, WB 1:500-2000. IF 1:50-200
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Other name
Membrane frizzled-related protein (Membrane-type frizzled-related protein)
Background
membrane frizzled-related protein(MFRP) Homo sapiens This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013],
Function
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 microphthalm
