Cysteine String Protein (CSP) Alpha, DNAJC5 Alpha (DNAJC5) Antibody – Rabbit Polyclonal

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]

Function: May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings

By similarity.

Subunit structure: Homodimer

Probable. Interacts with the chaperone complex consisting of HSC70 and SGTA

By similarity.

Subcellular location: Membrane; Lipid-anchor

By similarity. Melanosome. Cell membrane. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Ref.9 Ref.17

Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. Ref.1

Post-translational modification: Fatty acylated. Heavily palmitoylated in the cysteine string motif

By similarity.

Involvement in disease: Neuronal ceroid lipofuscinosis 4B (CLN4B) [MIM:162350]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Sequence similarities: Contains 1 J domain.