CYP27A1 Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

CYP27A1 Details

Gene Symbol : CYP27A1

Gene Name : Cytochrome P450 family 27 subfamily A member 1

Chromosome : CHR 2: 218,781,005-218,815,292

Locus : 2q35

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ZFAND2B Summary

This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

ZFAND2B Details

Gene Symbol : ZFAND2B

Gene Name : Zinc finger AN1-type containing 2B

Chromosome : CHR 2: 219,206,783-219,209,650

Locus : 2q35

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