TRPC4 Summary

This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

TRPC4 Details

Gene Symbol : TRPC4

Gene Name : Transient receptor potential cation channel subfamily C member 4

Chromosome : CHR 13: 378,703,73-376,338,71

Locus : 13q13.3

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UGGT2 Summary

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

UGGT2 Details

Gene Symbol : UGGT2

Gene Name : UDP-glucose glycoprotein glucosyltransferase 2

Chromosome : CHR 13: 960,534,81-958,015,79

Locus : 13q32.1

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