Arterial calcification, generalized, of infancy, 2: genes and variants
Arterial calcification, generalized, of infancy, 2 is linked to 1 analyzed protein (ABCC6). 25 DNA variants are known to cause it; 227 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Arterial calcification, generalized, of infancy, 2
ABCC6: ATP-binding cassette sub-family C member 6
Its ATP-dependent transport activity in liver and other tissues is required indirectly for maintaining extracellular pyrophosphate, a major inhibitor of inappropriate mineralization. Loss-of-function variants cause pseudoxanthoma elasticum and can promote calcification of skin, retina, and arteries.
25 disease-causing and 227 uncertain variants in ABCC6 are linked to Arterial calcification, generalized, of infancy, 2.
Where Arterial calcification, generalized, of infancy, 2 variants cluster
- ABCC6 Cytoplasmic (positions 1105–1175): 6 of 25 disease-causing changes, 5.1× more than its size predicts.
- ABCC6 ABC transporter 1 (positions 629–853): 8 of 25 disease-causing changes, 2.1× more than its size predicts.
Known disease-causing variants in Arterial calcification, generalized, of infancy, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCC6 R760Q | 760 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R1138Q | 1138 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R419Q | 419 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 R600C | 600 | Cytoplasmic | Disease-causing (★★) |
| ABCC6 R760W | 760 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R807W | 807 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R807Q | 807 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R1114C | 1114 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1114H | 1114 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1138W | 1138 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1221H | 1221 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1221C | 1221 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 G1302R | 1302 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R419W | 419 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 R487Q | 487 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC6 M751K | 751 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 G755R | 755 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 R765Q | 765 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 T811M | 811 | ABC transporter 1 | Disease-causing (★★) |
| ABCC6 T1130M | 1130 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 R1235W | 1235 | Cytoplasmic | Disease-causing (★★) |
| ABCC6 G1296D | 1296 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R1314W | 1314 | ABC transporter 2 | Disease-causing (★★) |
| ABCC6 R1164Q | 1164 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC6 Q1406K | 1406 | ABC transporter 2 | Disease-causing |
Which prediction tools work for Arterial calcification, generalized, of infancy, 2
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 98 out of 100
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 94 out of 100
- phyloP: 92 out of 100
Same protein, different disease
- Autosomal recessive inherited pseudoxanthoma elasticum is also caused by ABCC6 variants; they fall mostly in different places as the Arterial calcification, generalized, of infancy, 2 variants (67 disease-causing).
Diseases related to Arterial calcification, generalized, of infancy, 2
- Autosomal recessive inherited pseudoxanthoma elasticum, also linked to ABCC6
- Pseudoxanthoma elasticum, forme fruste, also linked to ABCC6
- Optic atrophy, also linked to ABCC6
Frequently asked questions
Which genes are linked to Arterial calcification, generalized, of infancy, 2?
In CATVariant, Arterial calcification, generalized, of infancy, 2 is linked to 1 analyzed protein: ABCC6 (ATP-binding cassette sub-family C member 6).
How many genetic variants are linked to Arterial calcification, generalized, of infancy, 2?
283 variants: 25 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 227 are of uncertain significance or have conflicting reports.
Which uncertain variants in Arterial calcification, generalized, of infancy, 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Arterial calcification, generalized, of infancy, 2?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.97, based on 24 disease-causing and 36 harmless variants).
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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