Rabbit anti-Human, Mouse SLC52A3 Polyclonal Antibody | anti-SLC52A3 antibody

SLC52A3 Antibody

Cat. Num. AAA7051240

• Gene Names: SLC52A3; RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1
• Reactivity: Human, Mouse
• Applications: ELISA, Western Blot, Immunohistochemistry, Immunofluorescence
• Purity: >95%, Protein G purified
• Synonyms: SLC52A3; Polyclonal Antibody; SLC52A3 Antibody; Solute carrier family 52; riboflavin transporter; member 3; Riboflavin transporter 2; hRFT2; C20orf54; RFT2; RFVT3; anti-SLC52A3 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >95%, Protein G purified
• Form/Format: Liquid
• Sequence Length: 469

• Applicable Applications for anti-SLC52A3 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
• Application Notes: WB: 1: 1000-1: 5000; IHC: 1: 20-1: 200; IF: 1: 50-1: 200
• Immunogen: Recombinant human Solute carrier family 52, riboflavin transporter, member 3 protein (159-220AA)
• Preservative: 0.03% Proclin 300
• Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
• Conjugation: Non-conjugated
• Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-85426
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Western Blot (WB)

(Western BlotPositive WB detected in:Mouse lung tissueAll lanes: Q9NQ4 antibody at 3.2ug/mlSecondaryGoat polyclonal to rabbit IgG at 1/50000 dilutionPredicted band size: 51,46 kDaObserved band size: 51 kDa)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human testis tissue using MBS7051240 at dilution of 1:100)

Immunohistochemistry (IHC)

(Immunofluorescent analysis of HepG2 cells using MBS7051240 at a dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L))

Related Product Information for anti-SLC52A3 antibody

Transporter for riboflavin, which must be obtained as a nutrient via intestinal absorption. Riboflavin transport is Na(+)-independent at low pH but significantly reduced by Na(+) depletion under neutral pH conditions. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride.

NCBI and Uniprot Product Information

• NCBI GI #: 156564359
• NCBI GeneID: 113278
• NCBI Accession #: NP_212134.3
• NCBI GenBank Nucleotide #: NM_033409.3
• UniProt Accession #: Q9NQ40; Q5W1A0; Q5W1A1; Q8NCL7; Q96GD5; A8K6P1
• 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 member 3
• NCBI Official Symbol: SLC52A3
• NCBI Official Synonym Symbols: RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1
• NCBI Protein Information: solute carrier family 52, riboflavin transporter, member 3
• UniProt Protein Name: Solute carrier family 52, riboflavin transporter, member 3
• Protein Family: Solute carrier family
• UniProt Gene Name: SLC52A3
• UniProt Synonym Gene Names: C20orf54; RFT2; RFVT3; hRFT2
• UniProt Entry Name: S52A3_HUMAN

NCBI Description

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 Description

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; plasma membrane

Molecular Function: riboflavin transporter activity

Biological Process: riboflavin metabolic process; riboflavin transport; sensory perception of sound

Disease: Brown-vialetto-van Laere Syndrome 1; Fazio-londe Disease