| Tbio | Lysyl oxidase homolog 3 |
Both isoforms function as amine oxidases toward elastin and different types of collagens. Isoform 1 shows the highest activity toward collagen type VIII, while Isoform 2 presents the highest activity toward collagen type IV.
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group A ependymoma | 1511 | 8.7e-11 |
| pilocytic astrocytoma | 3086 | 1.3e-09 |
| glioblastoma | 5572 | 1.6e-08 |
| tuberculosis | 1563 | 1.3e-06 |
| pediatric high grade glioma | 2712 | 7.4e-06 |
| cystic fibrosis | 1670 | 1.2e-05 |
| primitive neuroectodermal tumor | 3031 | 9.5e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Stickler syndrome | 13 | 4.162 | 2.1 |
| Irregular astigmatism | 11 | 4.034 | 2.0 |
| Cleft palate | 125 | 3.25 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| posterior fossa group A ependymoma | 1.300 | 8.7e-11 |
| glioblastoma | 1.200 | 1.6e-08 |
| cystic fibrosis | -1.301 | 1.2e-05 |
| primitive neuroectodermal tumor | 1.100 | 9.5e-04 |
| tuberculosis | 1.500 | 1.3e-06 |
| pediatric high grade glioma | 1.100 | 7.4e-06 |
| pilocytic astrocytoma | 1.400 | 1.3e-09 |
| PMID | Text | |
|---|---|---|
| 26957899 | Our results suggest that null mutations in LOXL3 are likely associated with autosomal recessive early-onset high myopia. LOXL3 is a potential candidate gene for high myopia, but this possibility should be confirmed in additional studies. | |
| 25663169 | LOXL3 is a novel candidate gene for autosomal recessive Stickler syndrome. | |
| 23357697 | TGF-beta1 induced injured MCL to express more LOXs than injured ACL (up to 1.85-fold in LOX, 2.21-fold in LOXL-1, 1.71-fold in LOXL-2, 2.52-fold in LOXL-3 and 3.32-fold in LOXL-4). | |
| 21740577 | The human lysyl oxidase-like 3 gene does not confer increased genotypic risk for adolescent idiopathic scoliosis. | |
| 19724858 | Expression of LOXL, LOXL2, LOXL3 and LOXL4 was not statistically associated with tumor location, stage, growth type, or differentiation status in colorectal adenocarcinomas | |
| 19015874 | Breast carcinoma effusions showed significantly higher LOXL2 and lower LOXL3 expression compared to primary carcinomas. | |
| 17287949 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | |
| 17018530 | LOXL3 encodes two variants, LOXL3 and LOXL3-sv1, both of which function as amine oxidases with distinct tissue and substrate specificities from one another. | |
| 16096638 | Lysyl-oxidase-like 3 interacts and cooperates with Snail to downregulate E-cadherin expression, and control epithelial-mesenchymal transitions and carcinoma progression. |
MRPVSVWQWSPWGLLLCLLCSSCLGSPSPSTGPEKKAGSQGLRFRLAGFPRKPYEGRVEIQRAGEWGTIC 1 - 70 DDDFTLQAAHILCRELGFTEATGWTHSAKYGPGTGRIWLDNLSCSGTEQSVTECASRGWGNSDCTHDEDA 71 - 140 GVICKDQRLPGFSDSNVIEVEHHLQVEEVRIRPAVGWGRRPLPVTEGLVEVRLPDGWSQVCDKGWSAHNS 141 - 210 HVVCGMLGFPSEKRVNAAFYRLLAQRQQHSFGLHGVACVGTEAHLSLCSLEFYRANDTARCPGGGPAVVS 211 - 280 CVPGPVYAASSGQKKQQQSKPQGEARVRLKGGAHPGEGRVEVLKASTWGTVCDRKWDLHAASVVCRELGF 281 - 350 GSAREALSGARMGQGMGAIHLSEVRCSGQELSLWKCPHKNITAEDCSHSQDAGVRCNLPYTGAETRIRLS 351 - 420 GGRSQHEGRVEVQIGGPGPLRWGLICGDDWGTLEAMVACRQLGLGYANHGLQETWYWDSGNITEVVMSGV 421 - 490 RCTGTELSLDQCAHHGTHITCKRTGTRFTAGVICSETASDLLLHSALVQETAYIEDRPLHMLYCAAEENC 491 - 560 LASSARSANWPYGHRRLLRFSSQIHNLGRADFRPKAGRHSWVWHECHGHYHSMDIFTHYDILTPNGTKVA 561 - 630 EGHKASFCLEDTECQEDVSKRYECANFGEQGITVGCWDLYRHDIDCQWIDITDVKPGNYILQVVINPNFE 631 - 700 VAESDFTNNAMKCNCKYDGHRIWVHNCHIGDAFSEEANRRFERYPGQTSNQII 701 - 753 //
| PMID | Year | Title | |
|---|---|---|---|
| 26957899 | 2016 | Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia. | |
| 25663169 | 2015 | LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome. | |
| 23357697 | 2013 | TGF-beta1 induces the different expressions of lysyl oxidases and matrix metalloproteinases in anterior cruciate ligament and medial collateral ligament fibroblasts after mechanical injury. | |
| 21740577 | 2011 | Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. | |
| 19724858 | 2009 | Differential expression of the LOX family genes in human colorectal adenocarcinomas. | |
| 19015874 | 2009 | Lysyl oxidase-like 4 is alternatively spliced in an anatomic site-specific manner in tumors involving the serosal cavities. | |
| 17287949 | 2007 | Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. | |
| 17018530 | 2006 | A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity. | |
| 16096638 | 2005 | A molecular role for lysyl oxidase-like 2 enzyme in snail regulation and tumor progression. | |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 12686136 | 2003 | Structural and functional diversity of lysyl oxidase and the LOX-like proteins. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 11642359 | 2001 | Lysyl oxidases: a novel multifunctional amine oxidase family. | |
| 11386757 | 2001 | Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein. | |
| 11334717 | 2001 | Cloning and characterization of a human lysyl oxidase-like 3 gene (hLOXL3). | |
| 11284725 | 2001 | Cloning and characterization of a fourth human lysyl oxidase isoenzyme. |
