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Gene Review:

dhcr7 - 7-dehydrocholesterol reductase

Xenopus (Silurana) tropicalis

Synonyms: 7-Dhcr, Xdhcr7, slos

Tadjuidje, E. et al., Koide, T. et al.

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Disease relevance of MGC75866

Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydrocholesterol reductase (DHCR7), an enzyme catalyzing the final step of cholesterol biosynthesis [1].
Human patients with inborn errors of 7-Dhcr (Smith-Lemli-Opitz-Syndrome) have elevated serum levels of 7-dehydrocholesterol but low levels of cholesterol, which in phenotypical terms can result in growth retardation, craniofacial abnormalities including cleft palate, and reduced metal abilities [2].

High impact information on MGC75866

7-dehydrocholesterol reductase (7-Dhcr) catalyses the final step in the pathway of cholesterol biosynthesis [2].
Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development [2].

References

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. Koide, T., Hayata, T., Cho, K.W. Development (2006) [Pubmed]
Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development. Tadjuidje, E., Hollemann, T. Dev. Dyn. (2006) [Pubmed]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use apsburg

DWF5	Arabidopsis thaliana
DHCR7	Bos taurus
DHCR7	Canis lupus familiaris
dhcr7	Danio rerio
DHCR7	Gallus gallus
DHCR7	Homo sapiens
MGG_03765	Magnaporthe oryzae 70-15
Dhcr7	Mus musculus
Os02g0465400	Oryza sativa Japonica Group
DHCR7	Pan troglodytes
Dhcr7	Rattus norvegicus

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