Gene: FFAR4

Alternate names for this Gene: BMIQ10|GPR120|GPR129|GT01|O3FAR1|PGR4

Gene Summary: This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.33

Description of this Gene: free fatty acid receptor 4

Type of Gene: protein-coding

Gene: RBP4

Alternate names for this Gene: MCOPCB10|RDCCAS

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q23.33

Description of this Gene: retinol binding protein 4

Type of Gene: protein-coding

rs36014035 in FFAR4;RBP4 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1329285216 in FFAR4;RBP4 gene and Congenital ocular coloboma (disorder) PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs1329285216 in FFAR4;RBP4 gene and Microphthalmos PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.

rs121918584 in FFAR4;RBP4 gene and RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME PMID 10232633 1999 Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.

PMID 23189188 2012 Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

PMID 9888420 1999 Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.