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Rabbit Anti-SLC27A4/FITC Conjugated antibody
background:
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. [provided by RefSeq, Apr 2010]
Function:
nvolved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Has acyl-CoA ligase activity for long-chain and very-long-chain fatty acids
Subcellular Location:
Membrane; Multi-pass membrane protein
Tissue Specificity:
Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue.
DISEASE:
Defects in SLC27A4 are the cause of ichthyosis prematurity syndrome (IPS) [MIM:608649]. A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations.
Similarity:
Belongs to the ATP-dependent AMP-binding enzyme family.
Database links:
Entrez Gene: 10999 Human
Entrez Gene: 26569 Mouse
Omim: 604194 Human
SwissProt: Q6P1M0 Human
SwissProt: Q91VE0 Mouse
Unigene: 656699 Human
Unigene: 330113 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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