C191887Level 5
AASS wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - Aminoadipate-Semialdehyde Synthase wt Allele - Aminoadipic Semialdehyde Synthase Gene - LKR/SDH - LKRSDH - LORSDH - Lysine-2-Oxoglutarate Reductase Gene
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Cross-system equivalences0
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