Gene: DNAJC5

Alternate names for this Gene: CLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5

Gene Summary: This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: DnaJ heat shock protein family (Hsp40) member C5

Type of Gene: protein-coding

rs387907043 in DNAJC5 gene and Ceroid Lipofuscinosis, Neuronal, Parry Type PMID 22235333 2012 Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PMID 21820099 2011 Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

PMID 22073189 2011 Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

PMID 22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

PMID 22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

rs587776892 in DNAJC5 gene and Neuronal Ceroid-Lipofuscinoses PMID 21820099 2011 Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

PMID 22235333 2012 Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PMID 22073189 2011 Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

PMID 22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

PMID 22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.