DNAJC1

Chr 10

DnaJ heat shock protein family (Hsp40) member C1

Also known as: DNAJL1, ERdj1, HTJ1, MTJ1

NCBI Gene: 64215 ENSG00000136770 UniProt: Q96KC8 OMIM: 611207

This gene encodes a membrane protein that functions as a DNAJ-like heat shock protein, binding the molecular chaperone BiP and containing SANT domains that interact with specific serpins. Mutations cause autosomal recessive neurodegeneration with brain iron accumulation (NBIA), typically presenting in childhood with dystonia, spasticity, and progressive movement disorders. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)