Property Summary

NCBI Gene PubMed Count 14
Grant Count 36
R01 Count 31
Funding $3,395,327.89
PubMed Score 4.68
PubTator Score 44.29

Knowledge Summary

Patent

No data available

Gene RIF (7)

PMID Text
22736936 The three consanguineous Egyptian anophthalmia patients carry a novel homozygous c.543+3A>G mutation (IVS2+3A>G) in RAX.
22558175 Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation.
20494911 Observational study of gene-disease association. (HuGE Navigator)
20057906 Observational study of gene-disease association. (HuGE Navigator)
19397404 Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.
19158959 A missense mutation in RX was observed in a patient with a small, typical chorioretinal coloboma, and postulate that the mutation is responsible for the patient's phenotype.
14662654 Mutations associated with recessive anophthalmos and sclerocornea.

AA Sequence

MHLPGCAPAMADGSFSLAGHLLRSPGGSTSRLHSIEAILGFTKDDGILGTFPAERGARGAKERDRRLGAR      1 - 70
PACPKAPEEGSEPSPPPAPAPAPEYEAPRPYCPKEPGEARPSPGLPVGPATGEAKLSEEEQPKKKHRRNR     71 - 140
TTFTTYQLHELERAFEKSHYPDVYSREELAGKVNLPEVRVQVWFQNRRAKWRRQEKLEVSSMKLQDSPLL    141 - 210
SFSRSPPSATLSPLGAGPGSGGGPAGGALPLESWLGPPLPGGGATALQSLPGFGPPAQSLPASYTPPPPP    211 - 280
PPFLNSPPLGPGLQPLAPPPPSYPCGPGFGDKFPLDEADPRNSSIAALRLKAKEHIQAIGKPWQAL        281 - 346
//

Text Mined References (16)

PMID Year Title
24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
22736936 2012 RAX and anophthalmia in humans: evidence of brain anomalies.
22558175 2012 Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
20494911 2010 Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
19397404 2009 Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia.
19158959 2009 Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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