rs2494068419
This variant is located in the RBP4 gene.
▶ClinVar annotation
Microphthalmia; Microphthalmia, isolated, with coloboma 10
View on ClinVar →About RBP4
This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
View all RBP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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