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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TECPR2-20-RE | 20 (40 μL) | 200 μL |  |
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| TECPR2-20-OR | 20 (40 μL) | 200 μL |  |
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| TECPR2-20-GO | 20 (40 μL) | 200 μL |  |
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| TECPR2-20-GR | 20 (40 μL) | 200 μL |  |
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| TECPR2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : TECPR2
Gene Name : Tectonin beta-propeller repeat containing 2
Chromosome : CHR 14: 102,362,911-102,502,480
Locus : 14q32.31
Alt. Genes : FEM1B
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