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LGMDD1

Chr 7AD

DnaJ heat shock protein family (Hsp40) member B6

Also known as: DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, LGMDD1

NCBI Gene: 10049 OMIM: 603511

This protein is a DNAJ family molecular chaperone that assists with protein folding and oligomeric protein complex assembly, and may be involved in polyglutamine aggregation in neurons. Mutations cause limb-girdle muscular dystrophy with autosomal dominant inheritance. The condition primarily affects the proximal muscles of the shoulders and hips.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— LGMDD1

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/LGMDD1?content-type=application/json&expand=1

gnomad: Error: Gene not found