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Retinol binding protein 4, also known as RBP4, is a transporter protein [5] for retinol (vitamin A alcohol). RBP4 has a molecular weight of approximately 21 kDa and is encoded by the RBP4 gene in humans.
Retinol and retinoic acid play crucial roles in the modulation of gene expression and overall development of an embryo. However, deficit or excess of either one of these substances can cause early embryo mortality or developmental malformations.
5928 19646 Ensembl ENSG00000162521 ENSMUSG00000057236 UniProt Q09028 Q60972 RefSeq (mRNA) NM_005610 NM_001135255 NM_001135256 NM_009030 RefSeq (protein) NP_001128727 NP_001128728 NP_005601 NP_033056 Location (UCSC) Chr 1: 32.65 – 32.69 Mb Chr 4: 129.2 – 129.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Histone-binding protein RBBP4 (also known as RbAp48, or NURF55) is a ...
RBP4 has recently been linked to autosomal dominant form of anophthalmia. [4] This form of anophthalmia has variable penetrance and a unique maternal inheritance effect that is rooted in pregnancy. Specifically, the disease only occurs when a mother and fetus both carry a RBP4 mutation which predisposes the fetus to vitamin A deficiency (a ...
Retinoic acid is actively transported into the cell nucleus by CRABp2 where it regulates thousands of genes by binding directly to gene targets via retinoic acid receptors. [6] In addition to retinol, retinal and retinoic acid, there are plant-, fungi- or bacteria-sourced carotenoids which can be metabolized to retinol, and are thus vitamin A ...
Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. The gene harbors four exons encoding 24, 59, 33, and 16 amino acid residues, respectively. The second intervening sequence alone occupies 19 kb of the 21 kb of the gene. [5]
NB: Each list page contains 5000 human protein-coding genes, sorted alphanumerically by the HGNC-approved gene symbol. Follow the Python code link for information about updates to the list of genes on these pages.
Full gene names, and especially gene abbreviations and symbols, are often not specific to a single gene. A marked example is CAP which can refer to any of 6 different genes (BRD4 Archived 2013-10-27 at the Wayback Machine, CAP1 Archived 2013-11-02 at the Wayback Machine, HACD1 Archived 2013-10-07 at the Wayback Machine, LNPEP Archived 2012-09-13 at the Wayback Machine, SERPINB6 Archived 2013 ...