RBP4 retinol binding protein 4
Gene ID: 5950, updated on 20-May-2024Gene type: protein coding
Also known as: RDCCAS; MCOPCB10
- See all available tests in GTR for this gene
- Go to complete Gene record for RBP4
- Go to Variation Viewer for RBP4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of circulating retinol levels. GeneReviews: Not available | |
| Microphthalmia, isolated, with coloboma 10 | See labs |
| Progressive retinal dystrophy due to retinol transport defect | See labs |
Genomic context
- Location:
- 10q23.33
- Sequence:
- Chromosome: 10; NC_000010.11 (93591694..93601744, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RBP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RBP4 database
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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