HSJ1

Gene name: DnaJ (Hsp40) homolog, subfamily B, member 2
OMIM ID: 604139
Chromosome location: 2q35

Mutations

Disease/Phenotype	Neuropathy, distal hereditary motor
Reference transcript	NM_006736.5
DNA Change	c.352+1G>A
A.A. Change
Exon/Intron	intron 5
Mutation Type	substitution
Reference	Blumen SC, Astord S, Robin V, Vignaud L, Toumi N, Cieslik A, Achiron A, Carasso RL, Gurevich M, Braverman I, Blumen N, Munich A, Barkats M, Viollet L.A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol. 2012 Apr;71(4):509-19.

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