Recombinant Human Protein SERAC1 (SERAC1), Truncated

Uniprot Id

Q96JX3

Target Species

Human

Target Name

SERAC1

Target Full Name

Protein SERAC1

Target Function

Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.

Target Involvement

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)

Target Subcellular Location

Membrane; Single-pass membrane protein. Endoplasmic reticulum. Mitochondrion. Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.

Target Protein Families

SERAC1 family

Target Tissue Specificity

Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.

Target Synonyms

SERAC1; Protein SERAC1; Serine active site-containing protein 1

Target Background

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.