TGM5 Summary

This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]

TGM5 Details

Gene Symbol : TGM5

Gene Name : Transglutaminase 5

Chromosome : CHR 15: 432,668,56-432,325,94

Locus : 15q15.2

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UBR1 Summary

The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]

UBR1 Details

Gene Symbol : UBR1

Gene Name : Ubiquitin protein ligase E3 component n-recognin 1

Chromosome : CHR 15: 431,060,87-429,428,96

Locus : 15q15.2

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