Neuropathy, hereditary sensory, with spastic paraplegia
OMIM:256840Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | CCT5 |
|---|---|
| Reference transcript | NM_012073.3 |
| DNA Change | c.440A>G |
| A.A. Change | p.His147Arg |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Bouhouche 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. |