NP_113621.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
48,919 Da
NCBI Official Full Name
membrane frizzled-related protein
NCBI Official Synonym Full Names
membrane frizzled-related protein
NCBI Protein Information
membrane frizzled-related protein
UniProt Protein Name
Membrane frizzled-related protein
UniProt Synonym Protein Names
Membrane-type frizzled-related protein
NCBI Summary for MFRP
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 Comments for MFRP
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 References and Citations for anti-MFRP antibody
Katoh, M., Biochem. Biophys. Res. Commun. 282 (1), 116-123 (2001) Mandal, M.N., et al, Invest. Ophthalmol. Vis. Sci. 46 (9), 3355-3362 (2005) Yang, L., et al, J. Dermatol. Sci. 42 (2), 111-119 (2006) Pauer, G.J., et al, Ophthalmic Genet. 26 (4), 157-161 (2005) Sundin, O.H., et al, Proc. Natl. Acad. Sci. U.S.A. 102 (27), 9553-9558 (2005)
Research Articles on MFRP
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-MFRP antibody
Diseases associated with anti-MFRP antibody
Organs/Tissues associated with anti-MFRP antibody
|