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

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

rs138958276 in DYNC2LI1;ABCG5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17031687 in DYNC2LI1;ABCG5 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17031687 in DYNC2LI1;ABCG5 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

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.