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- Table of Contents
Facts about Putative tyrosine-protein phosphatase auxilin.
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Human | |
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Gene Name: | DNAJC6 |
Uniprot: | O75061 |
Entrez: | 9829 |
Belongs to: |
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No superfamily |
DJC6; DnaJ (Hsp40) homolog, subfamily B, member 6; DnaJ (Hsp40) homolog, subfamily C, member 6; DnaJ homolog subfamily C member 6; EC 3.1.3.48; KIAA0473auxilin; MGC129914; MGC129915; MGC48436; putative tyrosine-protein phosphatase auxilin
Mass (kDA):
99.997 kDA
Human | |
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Location: | 1p31.3 |
Sequence: | 1; NC_000001.11 (65264694..65415871) |
Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissue, skeletal muscle and bone marrow.
PMID: 22563501 by Edvardson S., et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.
PMID: 23211418 by Koroglu C., et al. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.