Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)

Stable Identifier
R-HSA-5619108
Type
Pathway
Species
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

Anderson, CM, Stahl, A

Mol. Aspects Med. 2013
Participants
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Disease
Name Identifier Synonyms
autosomal recessive disease 0050737
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