LOXL1

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]

Description

Lysyl oxidase like 1

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Secreted to extracellular matrix

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (73925989 - 73952137)

Ensembl ID

ENSG00000129038  (ver. 103.38)

Orthologs

Mouse Loxl1: ENSMUSG00000032334

UniProt

Q08397

neXtProt

NX_Q08397

Human splice variants
Mouse splice variants

Protein structure