RBP4 gene

retinol binding protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Delivers 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.

From NCBI Gene:

  • Microphthalmia, isolated, with coloboma 10
  • Retinal dystrophy, iris coloboma, and comedogenic acne syndrome

From UniProt:

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS): 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. [MIM:615147]

Microphthalmia, isolated, with coloboma, 10 (MCOPCB10): A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). [MIM:616428]

Cytogenetic Location: 10q23.33, which is the long (q) arm of chromosome 10 at position 23.33

Molecular Location: base pairs 93,591,836 to 93,601,744 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q23.33, which is the long (q) arm of chromosome 10 at position 23.33
  • MCOPCB10
  • RDCCAS