LOX lysyl oxidase
Gene ID: 4015, updated on 18-Sep-2024Gene type: protein coding
Also known as: AAT10
- See all available tests in GTR for this gene
- Go to complete Gene record for LOX
- Go to Variation Viewer for LOX variants
Summary
This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aortic aneurysm, familial thoracic 10 | See labs |
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available |
Genomic context
- Location:
- 5q23.1
- Sequence:
- Chromosome: 5; NC_000005.10 (122063195..122078259, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LOX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/LOX genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LOX 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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