Autosomal recessive cutis laxa type 2: genes and variants
Autosomal recessive cutis laxa type 2 is linked to 1 analyzed protein (ATP6V1A). 2 DNA variants are known to cause it; 1 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: Autosomal recessive cutis laxa type 2D
Genes linked to Autosomal recessive cutis laxa type 2
ATP6V1A: V-type proton ATPase catalytic subunit A
It provides ATP-hydrolyzing activity to the vacuolar proton pump, driving acidification of endosomes, lysosomes, and secretory vesicles. De novo pathogenic variants can cause developmental encephalopathy with epilepsy and intellectual disability.
2 disease-causing and 1 uncertain variants in ATP6V1A are linked to Autosomal recessive cutis laxa type 2.
Known disease-causing variants in Autosomal recessive cutis laxa type 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP6V1A D100V | 100 | Disease-causing (★) | |
| ATP6V1A G72D | 72 | Disease-causing |
Diseases related to Autosomal recessive cutis laxa type 2
- Alzheimer disease, also linked to ATP6V1A
- Genetic developmental and epileptic encephalopathy, also linked to ATP6V1A
Frequently asked questions
Which genes are linked to Autosomal recessive cutis laxa type 2?
In CATVariant, Autosomal recessive cutis laxa type 2 is linked to 1 analyzed protein: ATP6V1A (V-type proton ATPase catalytic subunit A).
How many genetic variants are linked to Autosomal recessive cutis laxa type 2?
5 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive cutis laxa type 2 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.
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