Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.3.1.B13 extracted from

  • Wheeler, P.G.; Ng, B.G.; Sanford, L.; Sutton, V.R.; Bartholomew, D.W.; Pastore, M.T.; Bamshad, M.J.; Kircher, M.; Buckingham, K.J.; Nickerson, D.A.; Shendure, J.; Freeze, H.H.
    SRD5A3-CDG Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features (2016), Am. J. Med. Genet. A, 170, 3165-3171 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.3.1.B13

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
a polyprenol + NADPH + H+ Homo sapiens
-
 a dolichol + NADP+
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H8P0
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
a polyprenol + NADPH + H+
-
 Homo sapiens a dolichol + NADP+
-
 ?

Synonyms

Synonyms Comment Organism
polyprenol reductase
-
 Homo sapiens
SRD5A3
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADPH
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction congenital disorder of glycosylation (CDG) caused by SRD5A3 deficiency, SRD5A3-CDG is the disorder results from deleterious mutations in SRD5A3, phenotype analysis with emphasis on adult onset features and variable eye and skin involvement, including including kyphosis, retinitis pigmentosa, and cataracts, detailed overview Homo sapiens
metabolism the enzyme is involved in the major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis Homo sapiens