Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene.
Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.
== Structure == The SERAC1 gene is located on the q arm of chromosome 6 at position 25.3 and it spans 58,776 base pairs. The SERAC1 gene produces an 18.7 kDa protein composed of 162 amino acids. The structure of the encoded protein contains a C-terminal serine-lipase/esterase domain containing the consensus lipase motif GxSxG, and an N-terminal signal sequence.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).