Article
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.
Human molecular genetics - 1 Mar 2007
Vasireddy Vidyullatha, Uchida Yoshikazu, Salem Norman, Kim Soo Yeon, Mandal Md Nawajesh Ali, Reddy Geereddy Bhanuprakash, Bodepudi Ravi, Alderson Nathan L, Brown Johnie C, Hama Hiroko, Dlugosz Andrzej, Elias Peter M, Holleran Walter M, Ayyagari Radha
Abstract excerpt
Mutations in elongation of very long-chain fatty acid-4 (ELOVL4) are associated with autosomal dominant Stargardt-like macular degeneration (STGD3), with a five base-pair (5 bp) deletion mutation resulting in the loss of 51 carboxy-terminal amino acids and truncation of the protein. In addition to the retina, Elovl4 is expressed in a limited number of mammalian tissues, including skin, with unknown function(s)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.