2024年12月25日 · SLC27A4 (Solute Carrier Family 27 Member 4) is a Protein Coding gene. Diseases associated with SLC27A4 include Ichthyosis Prematurity Syndrome and Ichthyosis. Among its related pathways are Transport of vitamins, nucleosides, and related molecules and Disorders of transmembrane transporters.

Long-chain fatty acid transport protein 4 is a protein that in humans is encoded by the SLC27A4 gene. [5] [6] This membrane protein is also called FATP4 or ACSVL5 (very long chain fatty acyl-CoA synthetase 5).

2013年4月1日 · Identification of mutations and polymorphisms within SLC27A4 that are associated with obesity, insulin resistance, and skin disorders highlight a role for FATP4 in fatty acid metabolism and epidermal formation in humans.

2025年2月9日 · SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant. expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families

该基因编码脂肪酸转运蛋白家族的一个成员，该蛋白参与长链脂肪酸跨质膜的转运。 这种蛋白质在小肠成熟肠细胞的顶端以高水平表达，似乎是肠细胞中主要的脂肪酸转运体。 临床研究表明该基因是胰岛素抵抗综合征的候选基因。 该基因的突变与鱼鳞病早产综合症有关。 [RefSeq 提供，2010 年 4 月] This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane.

2015年11月9日 · Here, we confirmed the expression of SLC27A3 and SLC27A4 in human neural stem cells derived from human induced pluripotent stem cells, which suggested their involvement in the developmental stage...

Gene ID: 26569, updated on 8-Feb-2025. Enables oleoyl-CoA ligase activity and very long-chain fatty acid-CoA ligase activity. Involved in glucose import in response to insulin stimulus; long-chain fatty acid import into cell; and negative regulation of …

2024年12月9日 · Clinical resource with information about SLC27A4, Ichthyosis prematurity syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2021年6月15日 · By database analysis, Watkins et al. (2007) identified SLC27A4, which they called ACSVL5. The deduced 643-amino acid protein contains all 5 motifs characteristic of acyl-CoA synthetases. Phylogenetic analysis revealed that ACSVL5 belongs to a family of very long chain acyl-CoA synthetases.

在本研究中，我们报道了溶质载体家族 27 成员 4 (slc27a4) 在 21 种人类癌症中显着过表达，尤其是在肝细胞癌 (hcc)、乳腺癌和卵巢癌周围富含脂肪酸的微环境中。