KEGG   VARIANT: 22948v1
Entry
22948v1                      Variant                               
Name
CCT5 mutation
Type
Loss of function
Gene
CCT5  chaperonin containing TCP1 subunit 5 [KO:K09497]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610150
Network
nt06510  Telomere length regulation
Disease
H02580  Hereditary sensory neuropathy with spastic paraplegia
Reference
PMID:16399879
  Authors
Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
  Title
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.
  Journal
J Med Genet 43:441-3 (2006)
DOI:10.1136/jmg.2005.039230
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