Entity Details

Primary name SLC52A3
Entity type gene
Source Source Link

Details

PrimaryID113278
RefseqGeneNG_027687
SymbolSLC52A3
Namesolute carrier family 52 member 3
Chromosome20
Location20p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-08-22
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsS52A3_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006771 riboflavin metabolic process
GO:0007605 sensory perception of sound
GO:0016324 apical plasma membrane
GO:0031965 nuclear membrane
GO:0032217 riboflavin transmembrane transporter activity
GO:0032218 riboflavin transport
GO:0034605 cellular response to heat

Diseases

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Disease IDSourceNameDescription
211500 OMIMFazio-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. The disease is caused by variants affecting the gene represented in this entry.
211530 OMIMBrown-Vialetto-Van Laere syndrome 1 (BVVLS1)A rare 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
SLC52A3DNM2IntAct32814053 details
SLC52A3TOR1AIntAct32814053 details
SLC52A3ATXN3IntAct32814053 details