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SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis (show LBR ELISA Kits) prematurity syndrome in a premature infant.
expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families
The results have interesting implications that SLC27A4/ATG4B (show ATG4B ELISA Kits) 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.
we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD (show ARSD ELISA Kits)) 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.
We describe two siblings with ichthyosis (show LBR ELISA Kits) 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.
the cell surface protein (show CD28 ELISA Kits) CD36 (show CD36 ELISA Kits)/FAT directly facilitates fatty acid transport across the plasma membrane, whereas the intracellular acyl-CoA (show GNPAT ELISA Kits) synthetases FATP4 and ACSL1 (show Acsl1 ELISA Kits) enhance fatty acid uptake indirectly by metabolic trapping
the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis (show LBR ELISA Kits) prematurity syndrome, a congenital ichthyosis (show LBR ELISA Kits) caused by FATP4 deficiency. [review]
FATP4, ichthyin (show NIPAL4 ELISA Kits) and TGM1 (show TGM1 ELISA Kits) interact in lipid processing essential for maintaining the epidermal barrier function
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
FATP1 (show FATP1 ELISA Kits) and FATP4 proteins perform different functional roles in handling long chain fatty acids in skeletal muscle
Transgenic expression of FATP1 (show FATP1 ELISA Kits) in suprabasal keratinocytes rescued the phenotype of Fatp4 mutants, and FATP1 (show FATP1 ELISA Kits) sorted to the same intracellular organelles as endogenous FATP4
a spontaneous Fatp4/Scl27a4 splice site mutation in congenital ichthyosis (show LBR ELISA Kits)
A key role was demonstrated for FATP4 in oleic acide-induced GLP-1 (show GCG ELISA Kits) secretion from the murine intestinal L cell in vitro and in vivo.
even though hypoxia regulates the expression of FATP2 (show SLC27A2 ELISA Kits) and FATP4 in human trophoblasts, mouse Fatp2 (show SLC27A2 ELISA Kits) and Fatp4 are not essential for intrauterine fetal growth.
FATP4 contributes as an enzyme to the basal and insulin (show INS ELISA Kits)-mediated fatty acid uptake of CC muscle cells.
adipocyte-specific Fatp4 deficiency results in adipose hypertrophy and profound alterations in the metabolism of complex lipids.
Epidermal hyperproliferation in mice lacking FATP4 involves ectopic EGF receptor (show EGFR ELISA Kits) and Stat3 (show STAT3 ELISA Kits) signaling.
Fatp4-null mice displayed features of a neonatally lethal restrictive dermopathy. Lipid analysis demonstrated a disturbed fatty acid composition of epidermal ceramides.
FATP4 exhibits intrinsic acyl-coa synthetase activity and is a high velocity enzyme relative to FATP1 (show FATP1 ELISA Kits).
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. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome.
solute carrier family 27 (fatty acid transporter), member 4
, long-chain fatty acid transport protein 4
, fatty acid transport protein 4
, solute carrier family 27 member 4