SRD5A3 reduces pPNOL to DCHOL

Stable Identifier
R-HSA-4419979
Type
Reaction
Species
Homo sapiens
Compartment
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Polyprenol reductase (SRD5A3), resident on the endoplasmic reticulum membrane, mediates the reduction of the alpha-isoprene unit of polyprenol (pPNOL) to form dolichol (DCHOL) in a NADPH-dependent manner (Cantagrel et al. 2010). Defects in SRD5A3 cause congenital disorder of glycosylation 1q (SRD5A3-CDG, CDG1Q; MIM:612379), a neurodevelopmental disorder characterised by under-glycosylated serum glycoproteins resulting in nervous system development, psychomotor retardation, hypotonia, coagulation disorders and immunodeficiency (Cantagrel et al. 2010, Kasapkara et al. 2012). Defects in SRD5A3 can also cause Kahrizi syndrome (KHRZ; MIM:612713), a neurodevelopmental disorder characterised by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (Kahrizi et al. 2011).

Literature References
PubMed ID Title Journal Year
20700148 Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Kuss, AW, Chen, W, Ullmann, R, Kahrizi, K, Tzschach, A, Garshasbi, M, Abedini, SS, Najmabadi, H, Kariminejad, R, Ropers, HH, Hu, CH, Ghadami, S

Eur. J. Hum. Genet. 2011
20637498 SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Swistun, D, Ali, BR, De Brouwer, AP, Morava, E, Freeze, HH, Ng, BG, Dobyns, WB, Blümel, P, Babovic-Vuksanovic, D, Houliston, S, Adamowicz, M, Hombauer, H, Lefeber, DJ, Swiezewska, E, Sykut-Cegielska, J, Guan, Z, Bielas, SL, Cantagrel, V, van Bokhoven, H, Gleeson, JG, Raetz, CR, Wevers, RA, Al-Gazali, L, Lehle, L, Silhavy, JL

Cell 2010
22240719 SRD5A3-CDG: a patient with a novel mutation

Kasapkara, CS, Hasanoğlu, A, Tümer, L, Ezgü, FS, Matthijs, G, Race, V, Jaeken, J

Eur. J. Paediatr. Neurol. 2012
Participants
Participates
Catalyst Activity

oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor of SRD5A3 [endoplasmic reticulum membrane]

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