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- Table of Contents
Facts about Protein SERAC1.
May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. .
Human | |
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Gene Name: | SERAC1 |
Uniprot: | Q96JX3 |
Entrez: | 84947 |
Belongs to: |
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SERAC1 family |
FLJ14917; FLJ30544; protein SERAC1; serine active site containing 1
Mass (kDA):
74.147 kDA
Human | |
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Location: | 6q25.3 |
Sequence: | 6; NC_000006.12 (158109515..158168270, complement) |
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.
Membrane; Single-pass membrane protein. Endoplasmic reticulum. Mitochondrion. Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.
PMID: 23707711 by Tort F., et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
PMID: 22683713 by Wortmann S.B., et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.