Property Summary

NCBI Gene PubMed Count 27
Grant Count 17
R01 Count 15
Funding $3,921,101.75
PubMed Score 58.22
PubTator Score 69.67

Knowledge Summary

Patent

No data available

Gene RIF (22)

PMID Text
26583794 The current study expands our knowledge of the mutation spectrum of MFRP and its associated phenotypes. To our knowledge, this is the first report of MFRP mutations in a Chinese cohort.
23378726 Among five single nucleotide polymorphism(SNP)s tested, only MFRP rs3814762 and heat shock protein (HSP)70 rs1043618 show nominal association with primary angle closure.
23143909 nanophthalmos and high hyperopia but without electrophysiological evidence of retinal dystrophy has also been associated with MFRP mutations.
23127749 Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause.
22933837 MFRP gene shows tendency to be associated with primary angle closure glaucoma in both the Australian and Nepalese cohorts.
22605927 Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a single base deletion in MFRP.
22565643 Posterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.
21416382 In both previous reports of PMPRS, mutations in membrane type frizzled-related protein (MFRP) gene (located at 11q23) was demonstrated to be present
20361016 Three novel MFRP mutations that expand the phenotypic data available on patients with MFRP mutations, are reported.
19753314 This is the first demonstration of compound heterozygosity for MFRP mutations.
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AA Sequence

MKDFSDVILCMEATESSKTEFCNPAFEPESGPPCPPPVFPEDASYSVPAPWHGRRPRGLRPDCRFSWLCV      1 - 70
LLLSSLLLLLLGLLVAIILAQLQAAPPSGASHSPLPAGGLTTTTTTPTITTSQAAGTPKGQQESGVSPSP     71 - 140
QSTCGGLLSGPRGFFSSPNYPDPYPPNTHCVWHIQVATDHAIQLKIEALSIESVASCLFDRLELSPEPEG    141 - 210
PLLRVCGRVPPPTLNTNASHLLVVFVSDSSVEGFGFHAWYQAMAPGRGSCAHDEFRCDQLICLLPDSVCD    211 - 280
GFANCADGSDETNCSAKFSGCGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEA    281 - 350
QDECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVSSHHELAVLFRTDHGISSGGFSATYLAFNATENP    351 - 420
CGPSELSCQAGGCKGVQWMCDMWRDCTDGSDDNCSGPLFPPPELACEPVQVEMCLGLSYNTTAFPNIWVG    421 - 490
MITQEEVVEVLSGYKSLTSLPCYQHFRRLLCGLLVPRCTPLGSVLPPCRSVCQEAEHQCQSGLALLGTPW    491 - 560
PFNCNRLPEAADLEACAQP                                                       561 - 579
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Text Mined References (29)

PMID Year Title
26583794 2016 Identification of MFRP Mutations in Chinese Families with High Hyperopia.
23378726 2013 Association of frizzled-related protein (MFRP) and heat shock protein 70 (HSP70) single nucleotide polymorphisms with primary angle closure in a Han Chinese population: Jiangsu Eye Study.
23143909 2013 Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
23127749 2013 Biometric and molecular characterization of clinically diagnosed posterior microphthalmos.
23112574 2012 Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.
22933837 2012 A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.
22605927 2012 Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
22565643 2012 Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
21416382 2011 Posterior microphthalmos pigmentary retinopathy syndrome.
20361016 2010 A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
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