Property Summary

NCBI Gene PubMed Count 33
Grant Count 16
R01 Count 9
Funding $1,325,531.93
PubMed Score 36.64
PubTator Score 39.65

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.170 0.000
pancreatic ductal adenocarcinoma liver m... -1.158 0.002
psoriasis 1.100 0.000
lung carcinoma 2.200 0.000
gastric carcinoma -2.100 0.041

Gene RIF (22)

PMID Text
26691045 We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
25148430 Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families.
24752437 The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma.
23900199 Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa.
22926683 Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer.
22065924 Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy.
20801516 Observational study of genetic testing. (HuGE Navigator)
20736127 LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined.
20591486 Observational study of genetic testing. (HuGE Navigator)
20006610 Results suggest that the accelerated degradation of RDH12 mutants by the ubiquitin-proteasome system contributes to the pathophysiology and phenotypic variability associated with mutations in the RDH12 gene.
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AA Sequence

MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIAC      1 - 70
RDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGF     71 - 140
ETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLF    141 - 210
TRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGK    211 - 280
YFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE                                      281 - 316
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Text Mined References (36)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26691045 2015 Elevation deficiency in children with recessive RDH12-related retinopathy.
25416956 2014 A proteome-scale map of the human interactome network.
25148430 2014 Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
24752437 2014 Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
23900199 2013 Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
22926683 2012 The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer.
22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.
21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
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