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. [provided by RefSeq, Aug 2012]
Subcellular Location:
Membrane.
Similarity:
Belongs to the SERAC1 family.
Database links:
Entrez Gene: 84947 Human
Entrez Gene: 321007 Mouse
SwissProt: Q96JX3 Human
SwissProt: Q3U213 Mouse
Unigene: 154706 Human
Unigene: 5548 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
