Orphanet: DnaJ heat shock protein family Hsp40 member C5
x

Search for a gene

* (*) mandatory field

DNAJC5 - DnaJ heat shock protein family (Hsp40) member C5

  • Synonym(s) : DNAJC5A, FLJ00118, FLJ13070
  • Previous symbols and names : CLN4, DnaJ (Hsp40) homolog, subfamily C, member 5, ceroid-lipofuscinosis, neuronal 4 (Kufs disease)
  • Type : gene with protein product
  • Chromosomal location : 20q13.33
  • OMIM: 611203
  • HGNC: 16235
  • UniProtKB: Q9H3Z4
  • Genatlas: DNAJC5
  • Ensembl: ENSG00000101152
  • IUPHAR-DB: -
  • Reactome: Q9H3Z4
  • LOVD: DNAJC5

Diseases list

  • Disease-causing germline mutation(s) in CLN4B disease ORPHA:228343
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.