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Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
Stable Identifier
R-HSA-5619108
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) (Homo sapiens)
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The SLC27 gene family code for fatty acid transport proteins (FATPs). Long chain fatty acids (LCFAs) are critical for many physiological and cellular processes as a primary energy source. Of the six FATPs characterised, three have been shown to mediate the influx of LCFAs into cells; FATP1, 4 and 6. SLC27A4 (FATP4) is the major intestinal LCFA transporter but is also expressed at lower levels in brain, kidney, liver and heart. SLC27A4 is also expressed in skin, where it has been shown to play a major role in epidermal development, being highly expressed in neonatal keratinocytes. Defects in SLC27A4 can cause ichthyosis prematurity syndrome (IPS; MIM:604194), a keratinisation disorder which is characterised by thickened epidermis and respiratory complications. Patients suffer from a lifelong non-scaly ichthyosis (Anderson & Stahl 2013).
Literature References
PubMed ID
Title
Journal
Year
23506886
SLC27 fatty acid transport proteins
Stahl, A
,
Anderson, CM
Mol. Aspects Med.
2013
Participants
Events
Defective SLC27A4 does not transport LCFAs from extracellular region to cytosol
(Homo sapiens)
Participates
as an event of
SLC transporter disorders (Homo sapiens)
Disease
Name
Identifier
Synonyms
autosomal recessive disease
DOID:0050737
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
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