DHCR24 Summary

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

DHCR24 Details

Gene Symbol : DHCR24

Gene Name : 24-dehydrocholesterol reductase

Chromosome : CHR 1: 548,872,47-548,496,26

Locus : 1p32.3

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TCTN3 Summary

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

TCTN3 Details

Gene Symbol : TCTN3

Gene Name : Tectonic family member 3

Chromosome : CHR 10: 956,941,42-956,633,95

Locus : 10q24.1

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