ETHE1 Gene

Alternative Names

  • ETHE1
  • Hepatoma Subtracted Clone One
  • HSCO
  • D83198
Back to search Result
OMIM Number

608451

NCBI Gene ID

23474

Uniprot ID

O95571

Length

20,526 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Persulfide dioxygenase ETHE1, mitochondrial

Molecular Mass

27873 Da

Amino Acid Count

254

Genomic Location

chr19:43,506,719-43,527,244

Gene Map Locus
19q13.32

Description

ETHE1 is a human gene that codes for a putative enzyme involved in energy production in the mitochondria. The exact nature and function of this enzyme is not known. Studies in mice suggest that it is likely to be a sulfur dioxygenase involved in sulfide catabolism. Evidence suggests that the enzyme may be playing an active role in maintaining metabolic homeostasis in the mitochondria. There is also a possibility of the protein helping in the transport of transcription factor RELA/NFKB3 from the nucleus to the cytoplasm, thereby suppressing p53 induced apoptosis.

Mutations in the ETHE1 gene have been implicated in the pathogenesis of ethylmalonic encephalopathy (EE), an inborn error of metabolism, characterized by elevated excretion of ethylmalonic acid, recurrent petechia, orthostatic acrocyanosis, chronic diarrhea, and progressive neurodevelopmental delay, with a fatal outcome in early life.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014297.5:c.488G>AUnited Arab EmiratesNC_000019.10:g.43511454C>TPathogenicPathogenicEncephalopathy, EthylmalonicNG_008141.1:g.20791G>A; NM_014297.5:c.488G>A; NP_055112.2:p.Arg163Gln745656120214322

Other Reports

Kuwait

Heberle et al. (2006) discovered a novel homozygous mutation in exon 3 of the ETHE1 gene in a patient with ethylmalonic encephalopathy from Kuwait.

Ismail et al. (2009) reported a Kuwaiti girl with ethylmalonic encephalopathy. Gene mutation study revealed homozygous deletion of exon 4 of the ETHE1 gene. The patient died at 14 months after extensive bronchopneumonia.

© CAGS 2024. All rights reserved.