NCBI Description
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]
Uniprot Description
MFRP: May play a role in eye development. Defects in MFRP are the cause of nanophthalmos 2 (NNO2). NNO2 is a rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. Defects in MFRP are the cause of microphthalmia isolated type 5 (MCOP5). 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. MCOP5 is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q23.3
Cellular Component: integral to membrane
Disease: Microphthalmia, Isolated 5; Nanophthalmos 2
Product Notes
The MFRP mfrp (Catalog #
AAA6153510) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The MFRP (Membrane Frizzled-Related Protein, Membrane-type Frizzled-related Protein, C1QTNF5, DKFZp586B0621, FLJ30570, MCOP5, MGC32938 NNO2) (HRP) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's MFRP can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the MFRP mfrp for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"MFRP, Monoclonal Antibody" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are
absolutely not suitable for use in any
sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a
product from AAA Biotech, you
are explicitly certifying that said products will be properly tested and used in line with
industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
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aspect of this datasheet at
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