Human Gene SLC52A2 (uc003zcc.2) Description and Page Index
  Description: Homo sapiens solute carrier family 52, riboflavin transporter, member 2 (SLC52A2), transcript variant 3, mRNA.
RefSeq Summary (NM_001253816): This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012].
Transcript (Including UTRs)
   Position: chr8:145,582,217-145,584,948 Size: 2,732 Total Exon Count: 5 Strand: +
Coding Region
   Position: chr8:145,582,954-145,584,675 Size: 1,722 Coding Exon Count: 4 

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RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:145,582,217-145,584,948)mRNA (may differ from genome)Protein (445 aa)
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