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. [provided by RefSeq, Aug 2012]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
SERAC1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
SERAC1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
SERAC1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
SERAC1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
SERAC1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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. [provided by RefSeq, Aug 2012]
Gene Symbol : SERAC1
Gene Name : Serine active site containing 1
Chromosome : CHR 6: 158,168,279-158,109,503
Locus : 6q25.3
Alt. Genes : PREB
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