LOXL1 (NM_005576) - lysyl oxidase like 1
Lysyl Oxidase Homolog 1 Preproprotein
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Protein summary
This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016].
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: BC015090.2, BC068542.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
- Strand
- +
- Chromosome
- 15
- Protein
- 574 residues
- All mutations
- 71
- PTM sites
- 2
- CDS
- 74,219,124 - 74,244,178
- Transcription
- 74,218,788 - 74,244,478
Usage summary
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PTM site
Kinases group
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Kinase, PTM site or protein
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