WebFLVCR1 encodes for a transmembrane heme exporter protein and it is known to cause a rare form of syndromic retinitis pigmentosa: posterior column ataxia with retinitis pigmentosa. Recently, the FLVCR1-associated phenotype has been expanded with sporadic reports of hereditary sensory-autonomic neuropathy or non-syndromic retinitis pigmentosa. WebEnrichment for FLVCR1 was achieved as part of a customised HaloPlex enrichment system kit (Agilent Technologies) designed to capture the coding exons and 10bp of the flanking introns of 111retinal genes. HaloPlex reactions were …
Integrative genetic analysis identifies FLVCR1 as an essential ...
WebThis analysis revealed a connection between feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) - a plasma membrane protein - and phosphocholine, a downstream metabolite of choline... WebFeline leukemia virus subgroup C receptor (FLVCR1), a member of the SLC49 family of four paralogous genes, is a cell surface heme exporter, essential for erythropoiesis and … songs about god leading us
Entry - *609144 - FLVCR HEME TRANSPORTER 1; FLVCR1 - OMIM
WebMar 27, 2024 · From a thorough analysis, it was found that FLVCR1 played a role in the uptake of choline, a nutrient essential for normal bodily functions and human health. … WebFLVCR1, containing 12 hydrophobic transmembrane domains, is a member of the major facilitator superfamily and can transfer small solute molecules ( 6 ). FLVCR1 encodes two heme exporters, FLVCR1α localizing on the plasma membrane and FLVCR1β restricted to the mitochondria ( 6 ). WebIn a Pennsylvania Mennonite patient with posterior column ataxia and retinitis pigmentosa, Puffenberger et al. (2012) identified homozygosity for the N121D mutation in the FLVCR1 gene ( 609144.0001 ), previously found in the German-Swiss family originally reported by Higgins et al. (1997). The variant was detected in heterozygosity in 5 of 406 ... songs about goddesses