 |
Overview |
 |
|
C20orf54
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. Note: This description may include information from UniProtKB.
|
| Protein type: Membrane protein, integral |
|
Cellular Component: integral to plasma membrane
|
|
Molecular Function: riboflavin transporter activity
|
|
Biological Process: sensory perception of sound; riboflavin transport
|
|
Reference #:
Q9NQ40 (UniProtKB)
|
| Alt. Names/Synonyms: bA371L19.1; BVVLS; C20orf54; chromosome 20 open reading frame 54; CT054; hRFT2; hypothetical protein LOC113278; MGC10698; RFT2; Uncharacterized protein C20orf54 |
| Gene Symbols: SLC52A3 |
|
Molecular weight: 50,805 Da
|
|
Basal Isoelectric point: 5.46
Predict pI for various phosphorylation states
|
|
|
 |
|
Select Structure to View Below |
|
|
C20orf54 |
|
|
 |
|
|
|
|
