Aliases for TECPR2 Gene
External Ids for TECPR2 Gene
Previous HGNC Symbols for TECPR2 Gene
Previous GeneCards Identifiers for TECPR2 Gene
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]
GeneCards Summary for TECPR2 Gene
TECPR2 (Tectonin Beta-Propeller Repeat Containing 2) is a Protein Coding gene. Diseases associated with TECPR2 include spastic paraplegia 49, autosomal recessive and birdshot chorioretinopathy. An important paralog of this gene is HPS5.
UniProtKB/Swiss-Prot for TECPR2 Gene
Probably plays a role as positive regulator of autophagy.