Pain syndromesGene: CCT5
Not enough evidence to mark it green
Created: 18 Jul 2017, 8:37 a.m.
PMID:25124038 (2014) two mutations to date have been identified in the subunits of the eukaryotic cytosolic chaperonin TRiC, a protein machine responsible for folding actin and tubulin in the cell. C450Y CCT4 was identified in a stock of Sprague-Dawley rats (PMID:12874111), whereas H147R CCT5 was found in a human Moroccan family (PMID:16399879)
Created: 9 Jul 2017, 6:50 p.m.
1 case PMID: 16399879 (2006) 1 family 4 affecteds
Created: 9 Jul 2017, 6:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neuropathy, hereditary sensory, with spastic paraplegia; 256840; HSAN with spastic paraplegia
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HSAN with spastic paraplegia
Publications for CCT5 were set to 16399879; 25124038; 28623285;12874111
Publications for CCT5 were set to 16399879;25124038; 28623285
CCT5 was added to Pain syndromespanel. Sources: Literaure,Review
CCT5 was created by LouiseD