rs886056934

This variant is located in the DNAJC5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Neuronal Ceroid-Lipofuscinosis, Recessive

About DNAJC5

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. [provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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