DNAJB6 DnaJ heat shock protein family (Hsp40) member B6

Gene ID: 10049, updated on 14-Nov-2024
Gene type: protein coding
Also known as: DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1

Summary

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MedGen: C4721885OMIM: 603511GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-29) ClinGen Genome Curation Page

Genomic context

Location:: 7q36.3

Sequence:: Chromosome: 7; NC_000007.14 (157337004..157417439)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DNAJB6 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
DNAJB6 homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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