Cutis laxa: genes and variants
Cutis laxa is linked to 3 analyzed proteins (ATP7A, LOX and ELN). 7 DNA variants are known to cause it; 551 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: cutis laxa, autosomal dominant 1; Cutis laxa, X-linked
Genes linked to Cutis laxa
ATP7A: Copper-transporting ATPase 1
It delivers copper to secretory-pathway enzymes and exports excess copper from cells, making it essential for systemic copper distribution. Loss-of-function variants cause Menkes disease or occipital horn syndrome, while some hypomorphic alleles produce distal motor neuropathy.
6 disease-causing and 500 uncertain variants in ATP7A are linked to Cutis laxa.
LOX: Protein-lysine 6-oxidase
It oxidatively initiates covalent crosslinking of collagen and elastin, strengthening arteries and other extracellular matrices. Pathogenic loss-of-function variants can weaken the aortic wall and predispose to familial thoracic aortic aneurysm and dissection.
1 disease-causing and 0 uncertain variants in LOX are linked to Cutis laxa.
ELN: Elastin
Its elastic fibers allow arteries, lungs, skin, and other tissues to stretch and recoil repeatedly without structural failure. Haploinsufficiency causes supravalvular aortic stenosis, while other pathogenic variants can cause autosomal dominant cutis laxa.
0 disease-causing and 51 uncertain variants in ELN are linked to Cutis laxa.
Known disease-causing variants in Cutis laxa
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP7A G666R | 666 | Transmembrane | Disease-causing (★★) |
| ATP7A G727R | 727 | Transmembrane | Disease-causing (★★) |
| ATP7A P1001L | 1001 | Transmembrane | Disease-causing (★★) |
| ATP7A K1037N | 1037 | Cytoplasmic | Disease-causing (★★) |
| ATP7A P1386S | 1386 | Transmembrane | Disease-causing (★) |
| LOX T341P | 341 | Lysyl-oxidase like | Disease-causing (★) |
| ATP7A D859G | 859 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Menkes kinky-hair syndrome is also caused by ATP7A variants; they fall mostly in different places as the Cutis laxa variants (29 disease-causing).
- Aortic aneurysm, familial thoracic 7 is also caused by LOX variants; they fall mostly in different places as the Cutis laxa variants (3 disease-causing).
Diseases related to Cutis laxa
- Familial thoracic aortic aneurysm and aortic dissection, also linked to ELN and LOX
- Ehlers-Danlos syndrome, also linked to ATP7A
- Aortic aneurysm, familial thoracic 7, also linked to LOX
- Menkes kinky-hair syndrome, also linked to ATP7A
- Marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections, also linked to LOX
- X-linked distal spinal muscular atrophy type 3, also linked to ATP7A
- Supravalvar aortic stenosis, also linked to ELN
- Congenital aneurysm of ascending aorta, also linked to LOX
Frequently asked questions
Which genes are linked to Cutis laxa?
In CATVariant, Cutis laxa is linked to 3 analyzed proteins: ATP7A (Copper-transporting ATPase 1), LOX (Protein-lysine 6-oxidase) and ELN (Elastin).
How many genetic variants are linked to Cutis laxa?
747 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 551 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cutis laxa look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center