SLC27A4 Gene

The SLC27A4 gene (SLC27A4 stands for: Solute Carrier Family 27 Member 4) is a protein coding gene located on chromosome 9q34.11. The SLC27A4 gene encodes a member of a family of fatty acid transport proteins involved in the translocation of long chain fatty acids across the plasma membrane.

The SLC27A4 protein is highly expressed on the apical side of mature enterocytes in the small intestine and appears to be one of the major fatty acid transporters in enterocytes. The encoded protein plays a role in epidermal barrier formation. In the eye, it prevents light-induced degeneration of rods and cones.

Clinical studies suggest that this gene is a candidate for insulin resistance syndrome.

Mutations in this gene have been associated withichthyosis prematurity syndrome.

1. George R et al (2015) Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. Clin Case Rep 4:87-89.
2. Lin MH et al (2014) Fatty acid transporters in skin development, function and disease. Biochim Biophys Acta 1841:362-368.
3. Lwin SM et al (2016) Ichthyosis prematurity syndrome: from fetus to adulthood. JAMA Dermatol 152:1055-1058.
4. Metzger J et al (2015) A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis. PLoS One 10: e0141514.
5. Simpson JKet al. (2020) Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol 182:729-737.