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Literature summary extracted from

  • Makarova, A.M.; Pasta, S.; Watson, G.; Shackleton, C.; Epstein, E.H.
    Attenuation of UVR-induced vitamin D3 synthesis in a mouse model deleted for keratinocyte lathosterol 5-desaturase (2017), J. Steroid Biochem. Mol. Biol., 171, 187-194 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.19.20 gene Sc5D, located on chromosome 9 exon 4 Mus musculus

Protein Variants

EC Number Protein Variants Comment Organism
1.14.19.20 additional information generation of mice carrying a modified allele of sterol C5-desaturase (Sc5d), the gene encoding the enzyme that converts lathosterol to 7-dehydrocholesterol (7-DHC) by blastocyst injection, causing a reading frame shift and thereby likely triggering nonsense mediated decay of the aberrant transcript, such that Sc5d expression can be inactivated using the Cre/lox site-specific recombination system. By crossing to mice with tissue-specific expression of Cre or CreER2 (Cre/estrogen receptor), two lines of transgenic mice are generated. One line has constitutive keratinocyte-specific inactivation of Sc5d (Sc5dk14KO). The other line (Sc5dk14KOi) has tamoxifen-inducible keratinocyte-specific inactivation of Sc5d. Breeding scheme, overview. Confirmation of SC5D loss in keratinocytes by IHC and by measuring vitamin D3 level in the blood Mus musculus

Organism

EC Number Organism UniProt Comment Textmining
1.14.19.20 Mus musculus
-
-
-
1.14.19.20 Mus musculus C57Bl/6N (JM8A3.N1)
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.19.20 embryonic stem cell
-
Mus musculus
-
1.14.19.20 keratinocyte
-
Mus musculus
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.19.20 cholesta-7,24-dien-3beta-ol + 2 ferrocytochrome b5 + O2 + 2 H+
-
Mus musculus 7-dehydrodesmosterol + 2 ferricytochrome b5 + 2 H2O
-
?
1.14.19.20 cholesta-7,24-dien-3beta-ol + 2 ferrocytochrome b5 + O2 + 2 H+
-
Mus musculus C57Bl/6N (JM8A3.N1) 7-dehydrodesmosterol + 2 ferricytochrome b5 + 2 H2O
-
?
1.14.19.20 lathosterol + 2 ferrocytochrome b5 + O2 + 2 H+
-
Mus musculus 7-dehydrocholesterol + 2 ferricytochrome b5 + 2 H2O
-
?
1.14.19.20 lathosterol + 2 ferrocytochrome b5 + O2 + 2 H+
-
Mus musculus C57Bl/6N (JM8A3.N1) 7-dehydrocholesterol + 2 ferricytochrome b5 + 2 H2O
-
?

Synonyms

EC Number Synonyms Comment Organism
1.14.19.20 Lathosterol 5-desaturase
-
Mus musculus
1.14.19.20 Sc5d
-
Mus musculus
1.14.19.20 sterol C5-desaturase
-
Mus musculus

General Information

EC Number General Information Comment Organism
1.14.19.20 malfunction mice deleted for keratinocyte Sc5d lose the ability to increase circulating D3 following UVR exposure of the skin. Unlike in control mice, acute UVR exposure does not affect circulating D3 level in inducible Sc5dk14KOi mice. Phenotypes, overview Mus musculus
1.14.19.20 metabolism the enzyme is involved in the post squalene cholesterol and vitamin D3 synthesis, pathway overview Mus musculus