NP_212134.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
45,043 Da
NCBI Official Full Name
solute carrier family 52, riboflavin transporter, member 3
NCBI Official Synonym Full Names
solute carrier family 52 (riboflavin transporter), member 3
NCBI Official Synonym Symbols
RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1 [Similar Products]
NCBI Protein Information
solute carrier family 52, riboflavin transporter, member 3
UniProt Protein Name
Solute carrier family 52, riboflavin transporter, member 3
UniProt Synonym Protein Names
Riboflavin transporter 2; hRFT2
UniProt Synonym Gene Names
UniProt Entry Name
S52A3_HUMAN
NCBI Summary for SLC52A3
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
UniProt Comments for SLC52A3
SLC52A3: Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. Defects in SLC52A3 are the cause of Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1). A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia, and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. Defects in SLC52A3 are the cause of Fazio-Londe disease (FALOND). A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. Belongs to the riboflavin transporter family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 20p13
Cellular Component: integral to plasma membrane; apical plasma membrane; plasma membrane
Molecular Function: riboflavin transporter activity
Biological Process: riboflavin metabolic process; vitamin metabolic process; sensory perception of sound; riboflavin transport; water-soluble vitamin metabolic process
Disease: Fazio-londe Disease; Brown-vialetto-van Laere Syndrome 1
Research Articles on SLC52A3
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Products associated with SLC52A3 sirna
Pathways associated with SLC52A3 sirna
Diseases associated with SLC52A3 sirna
Organs/Tissues associated with SLC52A3 sirna
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