rs63751241
This is a variant in the ABCC6 gene that changes a glutamate to an lysine.
▶ClinVar annotation
Arterial calcification, generalized, of infancy, 2; Autosomal recessive inherited pseudoxanthoma elasticum (PXE); Pseudoxanthoma elasticum, forme fruste
View on ClinVar →▶Research that mentions this SNP (1)
▶ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)Case reportN=54Dealba Gheduzzi et al.(2004)· Human Mutation
This study sequenced the ABCC6 gene in 38 Italian families with pseudoxanthoma elasticum (PXE) and identified 23 different mutations, including 11 novel variants, with a detection rate of 82.9%. The most frequent mutation was p.R1141X (c.3421C>T), found in 26.3% of all alleles examined. A significant positive correlation was observed between patient age and severity of clinical manifestations, particularly affecting the eyes (p<0.001), suggesting age-dependent disease progression.
About ABCC6
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
View all ABCC6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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