Gene Facts External Data Attribution

HGNC Symbol
LOX (HGNC:6664) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lysyl oxidase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
1.23(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.29(Read more about gnomAD LOEUF score)
Cytoband
5q23.1
Genomic Coordinates
GRCh37/hg19: chr5:121398890-121413954 NCBI Ensembl UCSC
GRCh38/hg38: chr5:122063195-122078259 NCBI Ensembl UCSC
MANE Select Transcript
NM_002317.7 ENST00000231004.5 (Read more about MANE Select)
Function
Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity). {ECO:0000250|UniProtKB:P28301, ECO:0000269|PubMed:26838787}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5762
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)