rs212098
This variant is located in the ABCC6 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶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.
▶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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