Title : A missense mutation in the Abcg5 gene causes phytosterolemia in SHR, stroke-prone SHR, and WKY rats.

Pub. Date : 2003 May

PMID : 12611906






1 Functional Relationships(s)
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Protein Name
Organism
1 All three strains possessed a homozygous guanine-to-thymine transversion in exon 12 of the Abcg5 gene that results in the substitution of a conserved glycine residue for a cysteine amino acid in the extracellular loop between the fifth and sixth membrane-spanning domains of the ATP binding cassette half-transporter, sterolin-1. Glycine ATP binding cassette subfamily G member 5 Rattus norvegicus