Symbol
Name
ID
|
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Genetic Map
|
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Chromosome 7
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cytoband F5
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Mapping data(
2)
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(20)
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Alleles
and
phenotypes
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All alleles(5) :
Targeted, knock-out(2)
Targeted, other(1)
Gene trapped(2)
| Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (3)
Phenotype Images (3)
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Polymorphisms
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SNPs within 2kb(88 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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|
Expression
|
cDNA source data(83)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
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All nucleic(84)
Genomic(1)
cDNA(83)
Microarray probesets(2)
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Pathways
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Other database
links
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Protein
domains
|
| InterPro ID |
Description |
| IPR001171 |
Ergosterol biosynthesis ERG4/ERG24 |
| IPR018083 |
Sterol reductase, conserved site |
Graphical View
of Protein Domain Structure
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|
References
|
(Earliest)
J:48735
Fitzky BU et al.,
"Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome."
Proc Natl Acad Sci U S A 1998 Jul 7;95(14):8181-6
(Latest)
J:152110
Matabosch X et al.,
"Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome."
J Steroid Biochem Mol Biol 2009 Aug;116(1-2):61-70
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All references(20)
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Other
accession IDs
|
MGI:2141819
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