Gene: SERAC1

Alternate names for this Gene: -

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: serine active site containing 1

Type of Gene: protein-coding

rs1131690799 in SERAC1 gene and 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME PMID 25016221 2014 Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

PMID 28778788 2018 Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.

PMID 22683713 2012 Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

PMID 23707711 2014 Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

PMID 28482397 2017 [MEGDEL syndrome with an SERAC1 mutation: a case report].

rs2475553 in SERAC1 gene and Lipoprotein (a) measurement PMID 25575512 2015 Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.

PMID 26377243 2015 Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study.

rs9942466 in SERAC1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.