LOXL1 lysyl oxidase like 1
Gene ID: 4016, updated on 2-Nov-2024Gene type: protein coding
Also known as: LOL; LOXL
- See all available tests in GTR for this gene
- Go to complete Gene record for LOXL1
- Go to Variation Viewer for LOXL1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. GeneReviews: Not available | |
| Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population. GeneReviews: Not available | |
| Pseudoexfoliation glaucoma | See labs |
Genomic context
- Location:
- 15q24.1
- Sequence:
- Chromosome: 15; NC_000015.10 (73926462..73952136)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LOXL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LOXL1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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