GENETIC ENCYCLOPEDIA
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gene: DNAJA3

id9093
symbolDNAJA3
organismHomo sapiens
full nameDnaJ heat shock protein family (Hsp40) member A3
summaryThis gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
variant-disease

GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1 AND not provided

GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 AND See cases

GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 AND See cases

GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 AND See cases

NC_000016.9:g.(?_3777699)_(4852592_?)del AND Rubinstein-Taybi syndrome

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