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单词 aldh5a1
释义

ALDH5A1


ALDH5A1

A gene on chromosome 6p22 that encodes mitochondrial matrix NAD-dependent succinic semialdehyde dehydrogenase, of the aldehyde dehydrogenase family of proteins.
Molecular pathology
ALDH5A1 mutation causes 4-hydroxybutyricaciduria, which, due to an inability to metabolise GABA, results in accumulation of GHB, a neuromodulator.

ALDH5A1


AcronymDefinition
ALDH5A1Aldehyde Dehydrogenase 5 Family, Member A1
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更新时间:2024/12/23 22:43:55