Gene: ABCG5

Alternate names for this Gene: STSL|STSL2

Gene Summary: 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). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: ATP binding cassette subfamily G member 5

Type of Gene: protein-coding

Gene: DYNC2LI1

Alternate names for this Gene: CGI-60|D2LIC|LIC3

Gene Summary: This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: dynein cytoplasmic 2 light intermediate chain 1

Type of Gene: protein-coding

rs4148191 in ABCG5;DYNC2LI1 gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs10205816 in ABCG5;DYNC2LI1 gene and Iron level result PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs10205816 in ABCG5;DYNC2LI1 gene and Iron measurement PMID 21208937 2011 Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.

rs4148191 in ABCG5;DYNC2LI1 gene and Serum total cholesterol measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs199689137 in ABCG5;DYNC2LI1 gene and Sitosterolemia PMID 28521186 2017 Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

PMID 24166850 2014 Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

PMID 20521169 2010 We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.

PMID 17976197 2007 Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

PMID 25665839 2015 Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.

PMID 17228349 2007 Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.

PMID 29353225 2018 Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

PMID 29886606 2018 [Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].

PMID 26813946 2016 Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.

PMID 20719861 2010 Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

PMID 24423340 2014 Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.

PMID 21729603 2011 [Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].

PMID 19111681 2009 Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.