Variant: rs575266356 

    present in Gene: DYNC2LI1;ABCG5
    present in Chromosome: 2
    Position on Chromosome: 43823926
    Alleles of this Variant: G/A;C

rs575266356 in DYNC2LI1;ABCG5 gene and Sitosterolemia PMID 15054092 2004 Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.

PMID 11452359 2001 Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

PMID 11668628 2001 In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G).

PMID 11138003 2001 Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.