ALDH18A1

ALDH18A1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2H5G
Dynodwyr
Cyfenwau	ALDH18A1, ARCL3A, GSAS, P5CS, PYCS, Aldehyde dehydrogenase 18 family, member A1, ADCL3, SPG9A, SPG9B, aldehyde dehydrogenase 18 family member A1, SPG9
Dynodwyr allanol	OMIM: 138250 HomoloGene: 2142 GeneCards: ALDH18A1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • nucleotide binding • kinase activity • catalytic activity • GO:0001948, GO:0016582 protein binding • oxidoreductase activity • ATP binding • identical protein binding • glutamate 5-kinase activity • delta1-pyrroline-5-carboxylate synthetase activity • glutamate-5-semialdehyde dehydrogenase activity • RNA binding • oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Cydrannau o'r gell • bilen • mitochondrial inner membrane • cytoplasm • mitocondria • cytosol Prosesau biolegol • phosphorylation • proline biosynthetic process • cellular amino acid biosynthetic process • L-proline biosynthetic process • glutamate metabolic process • metabolaeth • ornithine biosynthetic process • citrulline biosynthetic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5832	n/a
Ensembl	ENSG00000059573	n/a
UniProt	P54886	n/a
RefSeq (mRNA)	NM_001017423 NM_002860 NM_001323412 NM_001323413 NM_001323414 NM_001323415 NM_001323416 NM_001323417 NM_001323418 NM_001323419	n/a
RefSeq (protein)	NP_001017423 NP_001310341 NP_001310342 NP_001310343 NP_001310344 NP_001310345 NP_001310346 NP_001310347 NP_001310348 NP_002851	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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.

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 ALDH18A1.

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

Llyfryddiaeth

• "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.