ECHS1

2HW5

ECHS1
ECHS1
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauECHS1, SCEH, ECHS1D, enoyl-CoA hydratase, short chain, 1, mitochondrial, enoyl-CoA hydratase, short chain 1, mECH, mECH1
Dynodwyr allanolOMIM: 602292 HomoloGene: 3018 GeneCards: ECHS1
EC number5.3.3.8 4.2.1.17, 5.3.3.8
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

1892

n/a

Ensembl

ENSG00000127884

n/a

UniProt

P30084

n/a

RefSeq (mRNA)

NM_004092

n/a

RefSeq (protein)

NP_004083

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ECHS1 yw ECHS1 a elwir hefyd yn Enoyl-CoA hydratase, short chain 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 10, band 10q26.3.[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ECHS1.

  • SCEH
  • ECHS1D

Llyfryddiaeth

  • "Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. ". Mol Genet Metab. 2017. PMID 28202214.
  • "A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. ". Clin Genet. 2017. PMID 27905109.
  • "Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. ". Mov Disord. 2016. PMID 27090768.
  • "Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. ". Hum Genet. 2015. PMID 26099313.
  • "Attenuation of enoyl coenzyme A hydratase 1 expression in colorectal cancer cells using small interfering RNA inhibits cell proliferation and migration.". Mol Med Rep. 2015. PMID 25739098.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ ECHS1 - Cronfa NCBI

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