RBP4 Chromosome 10
Retinol binding protein 4
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What This Gene Does
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]
Gene Info
Gene Group
Lipocalins
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000138207
Associated Conditions (12)
Microphthalmia
Congenital ocular coloboma
Unilateral microphthalmos
isolated
with coloboma 10
Inborn genetic diseases
Abnormality of the eye
Anterior segment dysgenesis
Bilateral microphthalmos
Anophthalmia
Progressive retinal dystrophy due to retinol transport defect
Retinal dystrophy
Key Variants
RS1329285216
Conflicting classifications of pathogenicity
Microphthalmia, Congenital ocular coloboma, Unilateral microphthalmos
Health Risk
RS2494068419
Conflicting classifications of pathogenicity
Microphthalmia, isolated, with coloboma 10
Health Risk
RS557609728
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779604024
Conflicting classifications of pathogenicity
Health Risk
RS111785373
Likely pathogenic
Abnormality of the eye, Abnormality of the eye
Health Risk
RS113712384
Likely pathogenic
Health Risk
RS1554887443
Likely pathogenic
Health Risk
RS2058270689
Likely pathogenic
Microphthalmia, isolated, with coloboma 10
Health Risk
RS2134575722
Likely pathogenic
Health Risk
RS2494059270
Likely pathogenic
Anterior segment dysgenesis, Anterior segment dysgenesis
Health Risk
RS2494059342
Likely pathogenic
Bilateral microphthalmos, Congenital ocular coloboma, Bilateral microphthalmos
Health Risk
RS2494068964
Likely pathogenic
Anophthalmia, Anophthalmia
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1329285216 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, Congenital ocular coloboma, Unilateral microphthalmos |
| RS2494068419 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, isolated, with coloboma 10 |
| RS557609728 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779604024 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS111785373 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS113712384 | Health Risk | Likely pathogenic | — |
| RS1554887443 | Health Risk | Likely pathogenic | — |
| RS2058270689 | Health Risk | Likely pathogenic | Microphthalmia, isolated, with coloboma 10 |
| RS2134575722 | Health Risk | Likely pathogenic | — |
| RS2494059270 | Health Risk | Likely pathogenic | Anterior segment dysgenesis, Anterior segment dysgenesis |
| RS2494059342 | Health Risk | Likely pathogenic | Bilateral microphthalmos, Congenital ocular coloboma, Bilateral microphthalmos |
| RS2494068964 | Health Risk | Likely pathogenic | Anophthalmia, Anophthalmia |
| RS794726861 | Health Risk | Likely pathogenic | Microphthalmia, isolated, with coloboma 10 |
| RS112811136 | Health Risk | Pathogenic | Progressive retinal dystrophy due to retinol transport defect, Progressive retinal dystrophy due to retinol transport defect |
| RS1259782555 | Health Risk | Pathogenic | — |
| RS1589687052 | Health Risk | Pathogenic | — |
| RS2058283703 | Health Risk | Pathogenic | Progressive retinal dystrophy due to retinol transport defect, Retinal dystrophy, Progressive retinal dystrophy due to retinol transport defect |
| RS2494068271 | Health Risk | Pathogenic | — |
| RS794726862 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 10 |