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Literature summary for 1.3.1.21 extracted from

  • Serra, M.; Matabosch, X.; Ying, L.; Watson, G.; Shackleton, C.
    Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome (2010), J. Steroid Biochem. Mol. Biol., 122, 318-325.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.3.1.21

Protein Variants

Protein Variants Comment Organism
T93M naturally occuring mutation involved in Dhcr7 deficiency and the Smith-Lemli-Opitz syndrome, overview Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus
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Mus musculus C57BL/6
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Source Tissue

Source Tissue Comment Organism Textmining
hair sterol spectra in hair from wild-type and Dhcr7 mutant mice, overview Mus musculus
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skin
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 Mus musculus
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Synonyms

Synonyms Comment Organism
Dhcr7
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 Mus musculus

General Information

General Information Comment Organism
additional information dehydrosterol reductase, DHCR7, deficiency is associated with Smith-Lemli-Opitz syndrome, phenotype, overview. In DHCR7 deficient mice, dehydrodesmosterol, a uniquely major sterol component in hair, is the dominant hair DELTA7 sterol Mus musculus