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MGP002601

UniProt Annotations

Entry Information
Gene Nameretinol binding protein 4, plasma
Protein EntryRET4_HUMAN
UniProt IDP02753
SpeciesHuman
Comments
Comment typeDescription
DiseaseRetinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) [MIM:615147]: A disease characterized by retinal degeneration, ocular colobomas involving both the anterior and posterior segment, impaired night vision and loss of visual acuity. Additional characteristic features include developmental abnormalities and severe acne. {ECO:0000269|PubMed:23189188, ECO:0000269|PubMed:9888420}. Note=The disease is caused by mutations affecting the gene represented in this entry. Loss of functional RBP4 protein results in serum retinol deficiency. Lack of normal levels of retinol impairs the visual cycle leading to night blindness at early stages; prolonged deficiency may lead to retinal degeneration. Additionally, retinol deficiency may result in dry skin, increased susceptibility to infection and acne (PubMed:23189188). {ECO:0000269|PubMed:23189188}.
FunctionDelivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin, this prevents its loss by filtration through the kidney glomeruli.
InteractionO55245:TTR (xeno); NbExp=2; IntAct=EBI-2116134, EBI-7038226;
Mass SpectrometryMass=20162; Method=MALDI; Range=19-194; Evidence={ECO:0000269|PubMed:12237133};
Mass SpectrometryMass=20534; Method=MALDI; Range=19-197; Evidence={ECO:0000269|PubMed:12237133};
Mass SpectrometryMass=21063.46; Mass_error=1.88; Method=Electrospray; Range=17-199; Evidence={ECO:0000269|PubMed:7666002};
Sequence CautionSequence=AAF69622.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the calycin superfamily. Lipocalin family. {ECO:0000305}.
Subcellular LocationSecreted.
Web ResourceName=Mutations of the RBP4 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rlbp4mut.htm";
Web ResourceName=Wikipedia; Note=Retinol-binding protein 4 entry; URL="http://en.wikipedia.org/wiki/Retinol_binding_protein_4";
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