SLC52A3

Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a is_associated_with::protein that in humans is encoded by the SLC52A3 is_associated_with::gene.

Function
This locus likely encodes a is_associated_with::transmembrane protein that may function as a is_associated_with::riboflavin transporter.

Clinical significance
Mutations at this locus have been associated with is_associated_with::Fazio–Londe disease and is_associated_with::Brown-Vialetto-Van Laere syndrome.

Model organisms
is_associated_with::Model organisms have been used in the study of C20orf54 function. The is_associated_with::orthologous gene in mice is called 2310046K01Rik. A conditional is_associated_with::knockout mouse line, called 2310046K01Riktm2a(KOMP)Wtsi was generated as part of the is_associated_with::International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on is_associated_with::mutant mice and three significant abnormalities were observed. No is_associated_with::homozygous is_associated_with::mutant embryos were identified during gestation, and therefore none survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice and males had an increased mean corpuscular is_associated_with::haemoglobin concentration.