EIF2AK4

Eukaryotic translation initiation factor 2-alpha kinase 4 adalah enzim yang disandikan oleh gen EIF2AK4 dalam tubuh manusia.[5][6]

EIF2AK4
Struktur yang tersedia
PDBPencarian Ortolog: PDBe RCSB
Pengidentifikasi
AliasEIF2AK4, GCN2, PVOD2, eukaryotic translation initiation factor 2 alpha kinase 4
ID eksternalOMIM: 609280 MGI: 1353427 HomoloGene: 40891 GeneCards: EIF2AK4
Lokasi gen (Manusia)
Kr.Kromosom 15 (manusia)[1]
Pita15q15.1Awal39,934,115 bp[1]
Akhir40,035,591 bp[1]
Ortolog
SpesiesManusiaTikus
Entrez

440275

27103

Ensembl

ENSG00000128829

ENSMUSG00000005102

UniProt

Q9P2K8

Q9QZ05

RefSeq (mRNA)

NM_001013703

NM_001177806
NM_013719
NM_001355383

RefSeq (protein)

NP_001013725

NP_001171277
NP_038747
NP_001342312

Lokasi (UCSC)Chr 15: 39.93 – 40.04 MbChr 2: 118.22 – 118.31 Mb
Pencarian PubMed[3][4]
Wikidata
Lihat/Sunting ManusiaLihat/Sunting Tikus

Dalam kedokteran

Mutasi pada gen ini dapat memicu hipertensi paru.[7]

Referensi

  1. GRCh38: Ensembl release 89: ENSG00000128829 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000005102 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Berlanga JJ, Santoyo J, De Haro C (Nov 1999). "Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase". Eur J Biochem. 265 (2): 754–62. doi:10.1046/j.1432-1327.1999.00780.x. PMID 10504407.
  6. "Entrez Gene: EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4".
  7. Eyries M, Montani D, Girerd B et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension, Nat Genet, 2014;46:65–69
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