Property Summary

NCBI Gene PubMed Count 121
PubMed Score 344.51
PubTator Score 225.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Bladder Neoplasm 109
Disease Target Count P-value
Breast cancer 3099 1.24936392340414E-11
Duchenne muscular dystrophy 602 1.33221348983935E-9
non-small cell lung cancer 2798 1.85700335608008E-9
pilocytic astrocytoma 3086 1.25222838491755E-7
posterior fossa group A ependymoma 1511 1.47849261029488E-7
juvenile dermatomyositis 1189 3.34268063522381E-7
group 3 medulloblastoma 2254 3.39822874976674E-6
ovarian cancer 8492 3.43242551438499E-6
limb girdle muscular dystrophy 2A 156 9.06818921714374E-6
atypical teratoid / rhabdoid tumor 4369 1.36459134298018E-5
pediatric high grade glioma 2712 2.74894083190927E-5
fascioscapulohumeral muscular dystrophy 100 1.52323865898778E-4
lung adenocarcinoma 2714 1.95422568131136E-4
ulcerative colitis 2087 2.67679094408948E-4
psoriasis 6685 4.24065447611143E-4
glioblastoma 5572 7.04898939411254E-4
medulloblastoma, large-cell 6234 0.00161348128160014
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00583761670093149
gastric carcinoma 832 0.00672022019437295
primitive neuroectodermal tumor 3031 0.00779288373854007
interstitial cystitis 2299 0.00927767664651806
pancreatic cancer 2300 0.0113568622615275
osteosarcoma 7933 0.0152463168055151
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0252240101173381
primary pancreatic ductal adenocarcinoma 1271 0.0272360372278083
interstitial lung disease 292 0.0323479865032557
cystic fibrosis and chronic rhinosinusitis 213 0.0440922315400834
Disease Target Count
Exfoliation syndrome 8

Expression

Synonym

Accession Q08397 Q6NUL3 Q96BW7
Symbols LOL
LOXL

Gene

PANTHER Protein Class (3)

  Ortholog (10)

Gene RIF (136)

PMID Text
26404116 Different SNPs in LOXL1 affect risk of pseudoexfoliative glaucoma in different ethnic groups [meta-analysis]
26348632 results indicate that hypermethylation of CpG islands in the promoter region of the LOXL1 gene leads directly to downregulation of LOXL1 mRNA and protein, which functions as an essential mechanism in the pathogenesis of Pseudoexfoliation Syndrome
26319397 Single nucleotide polymorphisms of the LOXL1 gene are associated with pseudoexfoliation glaucoma in the Spanish population.
26307087 To identify additional candidate functional variants, we sequenced the entire LOXL1 genomic locus ( approximately 40 kb) in 50 indigenous, black South African XFS cases and 50 matched controls.
25988230 Aortic tissue from Marfan syndrome patients and display enhanced expression of the members of the LOX family, LOX and LOX-like 1.
25750511 The polymorphisms of the LOXL1 gene were associated with the susceptibility to primary open-angle glaucoma.
25636109 There were no significant difference in allele frequency distribution of LOXL1 rs1048661rs3825942 and rs2165241 between primary open-angle glaucoma (POAG) and normal controls (P=0.322, P=0.660, P=0.965).
25304275 Our meta-analysis indicates that rs1048661 had weak association with XFG/XFS; rs3825942 had strongly association with XFG/XFS; and rs2165241 had significant risk with XFG/XFS in some ethnicity.
25275910 Collectively, these results suggest that dysregulation of LOXL1 expression is a contributing factor to exfoliation disease development.
25275906 Pathogenetic stimuli induced a significant increase in the expression of LOXL1 and elastic proteins and resulted in their assembly into exfoliation syndrome-like fibrils in vitro.
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AA Sequence

MALARGSRQLGALVWGACLCVLVHGQQAQPGQGSDPARWRQLIQWENNGQVYSLLNSGSEYVPAGPQRSE      1 - 70
SSSRVLLAGAPQAQQRRSHGSPRRRQAPSLPLPGRVGSDTVRGQARHPFGFGQVPDNWREVAVGDSTGMA     71 - 140
RARTSVSQQRHGGSASSVSASAFASTYRQQPSYPQQFPYPQAPFVSQYENYDPASRTYDQGFVYYRPAGG    141 - 210
GVGAGAAAVASAGVIYPYQPRARYEEYGGGEELPEYPPQGFYPAPERPYVPPPPPPPDGLDRRYSHSLYS    211 - 280
EGTPGFEQAYPDPGPEAAQAHGGDPRLGWYPPYANPPPEAYGPPRALEPPYLPVRSSDTPPPGGERNGAQ    281 - 350
QGRLSVGSVYRPNQNGRGLPDLVPDPNYVQASTYVQRAHLYSLRCAAEEKCLASTAYAPEATDYDVRVLL    351 - 420
RFPQRVKNQGTADFLPNRPRHTWEWHSCHQHYHSMDEFSHYDLLDAATGKKVAEGHKASFCLEDSTCDFG    421 - 490
NLKRYACTSHTQGLSPGCYDTYNADIDCQWIDITDVQPGNYILKVHVNPKYIVLESDFTNNVVRCNIHYT    491 - 560
GRYVSATNCKIVQS                                                            561 - 574
//

Text Mined References (124)

PMID Year Title
26404116 2015 Ethnicity-Based Differences in the Association of LOXL1 Polymorphisms with Pseudoexfoliation/Pseudoexfoliative Glaucoma: A Meta-Analysis.
26348632 2015 LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population.
26319397 2015 LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.
26307087 2015 Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
25988230 2015 Elevated expression levels of lysyl oxidases protect against aortic aneurysm progression in Marfan syndrome.
25750511 2015 Associations of polymorphisms of LOXL1 gene with primary open-angle glaucoma: a meta-analysis based on 5,293 subjects.
25636109 2015 [Association between LOXL1 gene polymorphisms and primary open angle glaucoma in Sichuan population].
25304275 2016 LOXL1 Gene Polymorphism With Exfoliation Syndrome/Exfoliation Glaucoma: A Meta-Analysis.
25275910 Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome.
25275906 Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome.
More...