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Browse our SERAC1 Proteins (SERAC1)

Full name:
Serine Active Site Containing 1 Proteins (SERAC1)
On www.antibodies-online.com are 3 Serine Active Site Containing 1 (SERAC1) Proteins from 2 different suppliers available. Additionally we are shipping SERAC1 Antibodies (27) and SERAC1 Kits (3) and many more products for this protein. A total of 36 SERAC1 products are currently listed.
Synonyms:
4930511N22Rik, D17Ertd141e
list all proteins Gene Name GeneID UniProt
SERAC1 84947 Q96JX3
SERAC1 321007 Q3U213

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SERAC1 Proteins (SERAC1) by Origin

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Human Serine Active Site Containing 1 (SERAC1) interaction partners

  1. Here we report two new Turkish sibling patients affected with MEGDEL syndrome due to SERAC1 gene mutation.

  2. Infantile mitochondrial hepatopathy is a cardinal (show CARD8 Proteins) feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

  3. During the course of this project a parallel study identified mutations in SERAC1 as the genetic cause of the disease in 15 patients with MEGDEL syndrome, which was compatible with the clinical and biochemical phenotypes of the patient described here.

  4. Data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking.

Mouse (Murine) Serine Active Site Containing 1 (SERAC1) interaction partners

SERAC1 Protein Profile

Protein 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.

Alternative names and synonyms associated with SERAC1

  • serine active site containing 1 (SERAC1)
  • serine active site containing 1 (Serac1)
  • 4930511N22Rik protein
  • D17Ertd141e protein

Protein level used designations for SERAC1

protein SERAC1 , serine active site-containing protein 1

GENE ID SPECIES
84947 Homo sapiens
321007 Mus musculus
519860 Bos taurus
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