Defective SRD5A3 causes SRD5A3-CDG, KHRZ

Stable Identifier
Homo sapiens
Defective SRD5A3 causes CDG-1q and KHRZ
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Polyprenol reductase (SRD5A3), resident on the endoplasmic reticulum membrane, normally mediates the reduction of the alpha-isoprene unit of polyprenol (pPNOL) to form dolichol (DCHOL) in a NADPH-dependent manner (Cantagrel et al. 2010). DCHOLs are substrates required for the synthesis of the lipid-linked oligosaccharide (LLO) precursor used for N-glycosylation. 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, holes in eye structures, pathological curvature of the spine, 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
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