LOXL4

Chr 10

lysyl oxidase like 4

Also known as: LOXC

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]

OMIMResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 0.93
OE 0.84 (0.641.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.16Z-score
OE missense 0.98 (0.911.06)
471 obs / 480.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.84 (0.641.12)
00.351.4
Missense OE?0.98 (0.911.06)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 33 / 39.3Missense obs/exp: 471 / 480.8Syn Z: 0.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LOXL4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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