7-Dehydrocholesterol

7-Dehydrocholesterol is a lipid of Sterol Lipids (ST) class. 7-dehydrocholesterol is associated with abnormalities such as Dehydration, Exanthema, RETINITIS PIGMENTOSA 49, Congenital Abnormality and Failure to Thrive. The involved functions are known as 5-(carboxyamino)imidazole ribonucleotide mutase activity, Mutation, Lysis, Anabolism and Biosynthetic Pathways. 7-dehydrocholesterol often locates in Plasma membrane, Body tissue, Tissue membrane, Membrane and outer membrane. The associated genes with 7-Dehydrocholesterol are mutant gene, THEMIS gene, IGKV1D-37 gene, LGALS4 gene and Orthologous Gene. The related lipids are Membrane Lipids, Steroids, Sterols, campesterol and 7-dehydrocholesterol. The related experimental models are Mouse Model, Knock-out and Rodent Model.

Cross Reference

Introduction

To understand associated biological information of 7-Dehydrocholesterol, we collected biological information of abnormalities, associated pathways, cellular/molecular locations, biological functions, related genes/proteins, lipids and common seen animal/experimental models with organized paragraphs from literatures.

What diseases are associated with 7-Dehydrocholesterol?

7-Dehydrocholesterol is suspected in Dehydration, Congenital Abnormality, Exanthema, Vitamin D Deficiency, Retinal Degeneration, Hereditary Diseases and other diseases in descending order of the highest number of associated sentences.

Related references are mostly published in these journals:

Disease Cross reference Weighted score Related literature
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Possible diseases from mapped MeSH terms on references

We collected disease MeSH terms mapped to the references associated with 7-Dehydrocholesterol

MeSH term MeSH ID Detail
Hemolysis D006461 131 associated lipids
Abnormalities, Multiple D000015 13 associated lipids
Intellectual Disability D008607 13 associated lipids
Smith-Lemli-Opitz Syndrome D019082 7 associated lipids
Total 4

PubChem Associated disorders and diseases

What pathways are associated with 7-Dehydrocholesterol

Lipid pathways are not clear in current pathway databases. We organized associated pathways with 7-Dehydrocholesterol through full-text articles, including metabolic pathways or pathways of biological mechanisms.

Related references are published most in these journals:

Pathway name Related literatures
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PubChem Biomolecular Interactions and Pathways

Link to PubChem Biomolecular Interactions and Pathways

What cellular locations are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:

Location Cross reference Weighted score Related literatures
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What functions are associated with 7-Dehydrocholesterol?


Related references are published most in these journals:

Function Cross reference Weighted score Related literatures

What lipids are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:

Lipid concept Cross reference Weighted score Related literatures
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What genes are associated with 7-Dehydrocholesterol?

Related references are published most in these journals:


Gene Cross reference Weighted score Related literatures

What common seen animal models are associated with 7-Dehydrocholesterol?

Mouse Model

Mouse Model are used in the study 'An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.' (Xu L et al., 2011) and Mouse Model are used in the study 'Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.' (Xu L et al., 2013).

Knock-out

Knock-out are used in the study 'Immunoglobulin E receptor signaling and asthma.' (Wu LC, 2011) and Knock-out are used in the study 'Novel activities of CYP11A1 and their potential physiological significance.' (Slominski AT et al., 2015).

Rodent Model

Rodent Model are used in the study 'Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.' (Goyal S et al., 2014) and Rodent Model are used in the study 'Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.' (Keller RK et al., 2004).

Related references are published most in these journals:

Model Cross reference Weighted score Related literatures
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NCBI Entrez Crosslinks

All references with 7-Dehydrocholesterol

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Authors Title Published Journal PubMed Link
Zechi-Ceide RM et al. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. 2009 Am. J. Med. Genet. A pmid:19449411
Waye JS et al. De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. 2007 Am. J. Med. Genet. A pmid:17595012
Nowaczyk MJ et al. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 2006 Am. J. Med. Genet. A pmid:16906538
Scalco FB et al. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. 2005 Am. J. Med. Genet. A pmid:15952211
Milunsky JM et al. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 2003 Am. J. Med. Genet. A pmid:12503101
Bianconi SE et al. Adrenal function in Smith-Lemli-Opitz syndrome. 2011 Am. J. Med. Genet. A pmid:21990131
Mueller C et al. Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. 2003 Am. J. Med. Genet. A pmid:14556255
Nowaczyk MJ et al. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 2004 Am. J. Med. Genet. A pmid:14981719
Rossi M et al. Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 2005 Am. J. Med. Genet. A pmid:15580635
Lin X et al. A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation. 2006 Am. J. Physiol. Gastrointest. Liver Physiol. pmid:16455790