ALDH18A1

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ALDH18A1
Protein ALDH18A1 PDB 2h5g.png
Strwythurau
PDBOrthologau:PDBe RCSB
Dynodwyr
CyfenwauALDH18A1, ARCL3A, GSAS, P5CS, PYCS, Aldehyde dehydrogenase 18 family, member A1, ADCL3, SPG9A, SPG9B, aldehyde dehydrogenase 18 family member A1, SPG9
Dynodwyr allanolMGI: 1888908 HomoloGene: 2142 GeneCards: ALDH18A1
Patrwm RNA pattern
PBB GE ALDH18A1 217791 s at fs.png
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_019698
NM_153554

RefSeq (protein)

NP_062672
NP_705782

Lleoliad (UCSC)n/aChr : 40.55 – 40.59 Mb
PubMed search[2][3]
Wicidata
Gweld/Golygu Bod dynolGweld/Golygu Llygoden

Protein sy'n cael ei godio yn y corff dynol gan y genyn ALDH18A1 yw ALDH18A1 a elwir hefyd yn Aldehyde dehydrogenase 18 family member A1 (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 10q24.1.[4]

Cyfystyron[golygu | golygu cod y dudalen]

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 ALDH18A1.

  • GSAS
  • P5CS
  • PYCS
  • SPG9
  • ADCL3
  • SPG9A
  • SPG9B
  • ARCL3A

Llyfryddiaeth[golygu | golygu cod y dudalen]

  • "Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. ". Eur J Pediatr. 2005. PMID 15517380.
  • "Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. ". Am J Hum Genet. 1999. PMID 9973297.
  • "Comparative and evolutionary studies of ALDH18A1 genes and proteins. ". Chem Biol Interact. 2017. PMID 27989597.
  • "Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). ". Am J Med Genet A. 2011. PMID 21739576.
  • "Human Delta1-pyrroline-5-carboxylate synthase: function and regulation.". Amino Acids. 2008. PMID 18401542.

Cyfeiriadau[golygu | golygu cod y dudalen]