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- Table of Contents
Facts about Alpha-aminoadipic semialdehyde synthase, mitochondrial.
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Human | |
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Gene Name: | AASS |
Uniprot: | Q9UDR5 |
Entrez: | 10157 |
Belongs to: |
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No superfamily |
aminoadipate-semialdehyde synthase; aminoadipic semialdehyde synthase; LKR/SDH; LKRSDH; LORSDH; lysine-2-oxoglutarate reductase; mitochondrial
Mass (kDA):
102.132 kDA
Human | |
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Location: | 7q31.32 |
Sequence: | 7; NC_000007.14 (122073544..122144269, complement) |
Expressed in all 16 tissues examined with highest expression in the liver.
Mitochondrion.
PMID: 10775527 by Sacksteder K.A., et al. Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.
PMID: 463877 by Dancis J., et al. Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.