SLC27A4 Antibody

1. SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant. PMID: 26341232
2. expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families PMID: 27168232
3. The results have interesting implications that SLC27A4/ATG4B complex might be conducive to the occurrence of autophagy in human cancer cells, which is meaningful investigations toward the aim of developing autophagy-targeting drugs and have significant values in clinical application. PMID: 26662804
4. no association between placental expression and maternal body mass index PMID: 27016784
5. we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants. PMID: 26548558
6. We describe two siblings with ichthyosis prematurity syndrome and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. PMID: 24889544
7. the cell surface protein CD36/FAT directly facilitates fatty acid transport across the plasma membrane, whereas the intracellular acyl-CoA synthetases FATP4 and ACSL1 enhance fatty acid uptake indirectly by metabolic trapping PMID: 24503477
8. the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis prematurity syndrome, a congenital ichthyosis caused by FATP4 deficiency. [review] PMID: 24120574
9. FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function PMID: 23290633
10. FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum PMID: 23271751
11. FATP1 and FATP4 proteins perform different functional roles in handling long chain fatty acids in skeletal muscle PMID: 22235293
12. even though hypoxia regulates the expression of FATP2 and FATP4 in human trophoblasts, mouse Fatp2 and Fatp4 are not essential for intrauterine fetal growth. PMID: 22028793
13. Mutation in FATP4 in a patient with self-healing congenital verruciform hyperkeratosis.( PMID: 20815031
14. findings propose fatty acid transport protein 4 as a candidate gene for the insulin resistance syndrome PMID: 14715877
15. intra-pair correlations revealed that FATP4 expression was significantly up-regulated in acquired obesity." PMID: 15168018
16. Data suggest that endogenous FATP4 does not function to translocate fatty acids across the plasma membrane, but functions more as a very long-chain acyl-CoA synthetase. PMID: 17901542
17. Mutations in FATP4 gene cause the ichthyosis prematurity syndrome. PMID: 19631310

Show More

Hide All

HGNC: 10998

OMIM: 604194

KEGG: hsa:10999

STRING: 9606.ENSP00000300456

UniGene: Hs.656699