rs63750700
This is a splice region variant variant in the ABCC6 gene.
▶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 (2)
▶Mutational analysis of theABCC6 gene and the proximalABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)AssociationN=98Veronika Schulz et al.(2006)· Human Mutation
A mutational analysis of the complete ABCC6 gene in 61 German pseudoxanthoma elasticum (PXE) patients identified 42 different mutations (32 previously described, 10 novel), with a detection rate of 87.7%. The most frequent mutations were p.R1141X (27.8% allele frequency), c.2787+1G>T (4.1%), and the large deletion Ex23_Ex29del (5.7%). Additionally, three promoter polymorphisms (c.-127C>T, c.-132C>T, c.-219A>C) were characterized, with c.-219A>C showing significantly lower frequency in PXE patients compared to controls, suggesting a potential protective effect.
▶New ABCC6 gene mutations in German pseudoxanthoma elasticum patientsCase reportN=130Doris Hendig et al.(2005)· Journal of Molecular Medicine
This study identified 11 disease-associated ABCC6 mutations in 76 German pseudoxanthoma elasticum (PXE) patients, including 7 novel mutations. The most common mutation was p.R1141X (found in 44.7% of patients), with 5 novel missense mutations (p.M751K, p.R760W, p.L851P, p.F952C, p.S1403R) and 2 novel deletions (c.2835_2850del16, c.4434delA). Most PXE patients carried compound heterozygous genotypes with two ABCC6 mutations.
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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