| Tbio | Lysyl oxidase homolog 3 |
Isoform 2: Shows protein-lysine 6-oxidase activity toward elastin and different types of collagens, with the highest activity toward collagen type IV (PubMed:17018530).
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 |
|---|---|---|
| Astrocytoma, Pilocytic | 3081 | 2.1e-09 |
| glioblastoma | 5792 | 1.6e-08 |
| tuberculosis | 2010 | 1.3e-06 |
| pediatric high grade glioma | 1064 | 7.4e-06 |
| cystic fibrosis | 1696 | 1.2e-05 |
| primitive neuroectodermal tumor | 3035 | 9.5e-04 |
| ependymoma | 4679 | 4.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Stickler syndrome | 13 | 3.966 | 2.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Irregular astigmatism | 12 | 3.773 | 1.9 |
| Cleft Palate | 271 | 3.042 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| Astrocytoma, Pilocytic | 1.400 | 2.1e-09 |
| cystic fibrosis | -1.301 | 1.2e-05 |
| ependymoma | 1.200 | 4.0e-02 |
| glioblastoma | 1.200 | 1.6e-08 |
| pediatric high grade glioma | 1.100 | 7.4e-06 |
| primitive neuroectodermal tumor | 1.100 | 9.5e-04 |
| tuberculosis | 1.500 | 1.3e-06 |
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 //
