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Rabbit Anti-DNAJC30/FITC Conjugated antibody
background:
This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]
Function:
DNAJC30 is a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23.
Tissue Specificity:
Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis.
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.
Database links:
Entrez Gene: 84277 Human
GenBank: BC005056 Human
SwissProt: Q96LL9 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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