MitoProteome Database

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MT001403

UniProt Annotations

Entry Information

Gene Name	DnaJ (Hsp40) homolog, subfamily C, member 30
Protein Entry	DJC30_HUMAN
UniProt ID	Q96LL9
Species	Human

Comments

Comment type	Description
Disease	Note=DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity	Contains 1 J domain. {ECO:0000255\|PROSITE- ProRule:PRU00286}.
Tissue Specificity	Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis. {ECO:0000269\|PubMed:12073013}.