ALDH4A1

(redirected from P5CDh)

ALDH4A1

A gene on chromosome 1p36 that encodes mitochondrial matrix NAD-dependent dehydrogenase (of the aldehyde dehydrogenase family of proteins), which catalyses the second step of the proline degradation pathway by converting pyrroline-5-carboxylate to glutamate, a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles.

Molecular pathology
ALDH4A1 mutation causes type-II hyperprolinaemia, which is characterised by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
In this study, one gene encoding pyrroline-5-carboxylate synthetase (P5CS), one gene encoding ornithine aminotransferase (OAT), one gene encoding pyrroline-5-carboxylate reductase (P5CR), one gene encoding proline dehydrogenase (ProDH), and one gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH) related to proline metabolism were also identified (Figure 6(b) and Table S6).
In plants, the first report covered cis-NATs coding SRO5 and P5CDH, involved in the regulation of salt tolerance through RNAi pathway in Arabidopsis thaliana [5].
[5] found that the D1-pyrroline-5-carboxylate dehydrogenase (P5CDH) antisense overlapping gene pair is a stress-related gene.
SR05 mRNA is complementary to P5CDH mRNA (P5CDH protein is an important enzyme for proline breakdown) and they together generate a dsRNA which is acted upon by siRNA biogenesis pathway factors (DCL2, RDR6, SGS3, and NRPD1A) to produce 24nt-siRNA.