Condition: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE


rs750908377 in TECPR2 gene and SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE PMID 26542466 2016 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

PMID 23176824 2012 Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.

PMID 26431026 2015 TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.