TECPR2, Official Symbol TECPR2provided by HGNC Official Full Name tectonin beta-propeller repeat containing 2provided by HGNC Primary source HGNC:HGNC:19957 See related Ensembl:ENSG00000196663 MIM:615000; AllianceGenome:HGNC:19957 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSAN9; SPG49; KIAA0329 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] Expression Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.5) and 25 other tissues See more Orthologs mouse all