Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CCT5

Gene name: chaperonin containing TCP1, subunit 5 (epsilon)
OMIM ID: 610150
Chromosome location: 5p15.2

Mutations

Disease/PhenotypeNeuropathy, hereditary sensory, with spastic paraplegia
Reference transcriptNM_012073.3
DNA Changec.440A>G
A.A. Changep.His147Arg
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceBouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M.Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
J Med Genet. 2006 May;43(5):441-3.