rs6829588
This is a intron variant variant in the MARCHF1 gene.
▶Research that mentions this SNP (1)
▶Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL familiesAssociationN=253Ellen M. Wijsman et al.(2010)· Human Genetics
A linkage-based genome scan of four large familial combined hyperlipidemia (FCHL) pedigrees identified a candidate region on chromosome 4q32.3 for apolipoprotein B (apoB) level independent of LDL cholesterol. SNP rs6829588 explained approximately 39% of the apoB phenotypic variance (heterozygotes ~30% higher than high-frequency homozygotes), with the strongest linkage signal showing LOD = 3.1 and log Bayes Factor = 1.5, supporting the rare variant model in large pedigrees.
About MARCHF1
MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
View all MARCHF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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