TECPR2 Summary

The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

TECPR2 Details

Gene Symbol : TECPR2

Gene Name : Tectonin beta-propeller repeat containing 2

Chromosome : CHR 14: 102,362,911-102,502,480

Locus : 14q32.31

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WDR20 Summary

This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]

WDR20 Details

Gene Symbol : WDR20

Gene Name : WD repeat domain 20

Chromosome : CHR 14: 102,139,517-102,224,685

Locus : 14q32.31

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