AASS wt Allele

Preferred Label : AASS wt Allele;

NCIt synonyms : Lysine-2-Oxoglutarate Reductase Gene; LKR/SDH; LKRSDH; LORSDH; Aminoadipate-Semialdehyde Synthase wt Allele; Aminoadipic Semialdehyde Synthase Gene;

NCIt definition : Human AASS wild-type allele is located in the vicinity of 7q31.32 and is approximately 80 kb in length. This allele, which encodes alpha-aminoadipic semialdehyde synthase, mitochondrial protein, is involved in lysine degradation. Mutation of the gene is associated with hyperlysinemia.;

NCI Metathesaurus CUI : CL1905468;

GenBank Accession Number : AF229180;

Details

Origin ID

C191887;

UMLS CUI

C5780948;

OMIM relation
- Alpha-aminoadipic semialdehyde synthase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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