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SERAC1 serine active site containing 1

Gene ID: 84947, updated on 25-Jan-2022
Gene type: protein coding

Summary

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]

Genomic context

Location:
6q25.3
Sequence:
Chromosome: 6; NC_000006.12 (158109515..158168270, complement)
Total number of exons:
19

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