SLCO1B3 - Solute carrier organic anion transporter family member 1B3 - human protein (Medical)
 
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SLCO1B3 »  Solute carrier organic anion transporter family member 1B3
 
Protein also known as:  Liver-specific organic anion transporter 2 (LST-2).
Gene name:  SLCO1B3
Entry whose protein(s) existence is based on evidence at protein level
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1 71 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Hyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]: An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Rotor syndrome  3111  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 28234
MIM: 237450
PharmGKB: PA35844
Polymorphism databases
DMDM: 27734563
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.