NP_005567.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
63,110 Da
NCBI Official Full Name
lysyl oxidase homolog 1 preproprotein
NCBI Official Synonym Full Names
lysyl oxidase-like 1
NCBI Official Synonym Symbols
NCBI Protein Information
lysyl oxidase homolog 1; lysyl oxidase-like protein 1
UniProt Protein Name
Lysyl oxidase homolog 1
UniProt Synonym Protein Names
Lysyl oxidase-like protein 1
UniProt Synonym Gene Names
UniProt Entry Name
LOXL1_HUMAN
NCBI Summary for LOXL1
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. 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. [provided by RefSeq, Jul 2008]
UniProt Comments for LOXL1
LOXL1: Active on elastin and collagen substrates. Genetic variations in LOXL1 are a cause of susceptibility to exfoliation syndrome (XFS); also called exfoliation glaucoma (XFG). XFS is a disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues. Susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease susceptibility in some populations. Belongs to the lysyl oxidase family.
Protein type: Oxidoreductase; Extracellular matrix; Secreted, signal peptide; EC 1.4.3.-; Secreted
Chromosomal Location of Human Ortholog: 15q22
Cellular Component: extracellular matrix; extracellular space; extracellular region; acrosome; basement membrane
Molecular Function: copper ion binding; oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor
Biological Process: extracellular matrix organization and biogenesis; response to lipopolysaccharide; protein amino acid deamination
Disease: Exfoliation Syndrome
Research Articles on LOXL1
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Products associated with LOXL1 elisa kit
Pathways associated with LOXL1 elisa kit
Diseases associated with LOXL1 elisa kit
Organs/Tissues associated with LOXL1 elisa kit
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