Gene Symbol: TECPR2
Description: tectonin beta-propeller repeat containing 2
Alias: KIAA0329, SPG49, tectonin beta-propeller repeat-containing protein 2
Heimer G, Oz Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo E, et al
. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2016;20:69-79 pubmed publisher
b>TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features...
Oz Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013;9:801-2 pubmed publisher
..We have recently reported a recessive mutation in TECPR2, an autophagy-implicated WD repeat-containing protein, in five individuals with a novel form of monogenic ..
Stadel D, Millarte V, Tillmann K, Huber J, Tamin Yecheskel B, Akutsu M, et al
. TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export. Mol Cell. 2015;60:89-104 pubmed publisher
..A mutation in the gene encoding for Tectonin Î²-propeller containing protein 2 (TECPR2) causes HSP that is complicated by neurological symptoms...
Oz Levi D, Ben Zeev B, Ruzzo E, Hitomi Y, Gelman A, Pelak K, et al
. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012;91:1065-72 pubmed publisher
..identified one homozygous variant shared among all affected individuals and absent in controls: a 1 bp frameshift TECPR2 deletion leading to a premature stop codon and predicting significant degradation of the protein...
Kuiper J, van Setten J, Ripke S, van t Slot R, Mulder F, Missotten T, et al
. A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. Hum Mol Genet. 2014;23:6081-7 pubmed publisher
..3, 95% CI 1.7-3.1, for the T allele, P = 8.6 × 10(-8)) and at 14q32.31 in the TECPR2 gene (rs150571175; OR = 6.1, 95% CI 3.2-11.7, for the A allele, P = 3.2 × 10(-8))...
Covone A, Fiorillo C, Acquaviva M, Trucco F, Morana G, Ravazzolo R, et al
. WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. Clin Genet. 2016;90:182-5 pubmed publisher
..Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance...