Literature summary for 1.3.1.21 extracted from

Romano, F.; fiore, B.; Pezzino, F.M.; Longombardo, M.T.; Cefalu, A.B.; Noto, D.; Puglisi, A.; Brogna, A.; Mattina, T.; Averna, M.; Travali, S.
A novel mutation of the DHCR7 gene in a Sicilian compound heterozygote with Smith-Lemli-Optiz syndrome (2005), Mol. Diagn., 9, 201-204.

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Protein Variants

Protein Variants	Comment	Organism
E288K	mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation I251N	Homo sapiens
I251N	mutation isolated in patient with severe form of Smith-Lemli-Opitz syndrome, carrying additional heterozygous mutation E288K	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9UBM7	patient with Smith-Lemli-Opitz syndrome	-

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Release 2023.1 (January 2023)