DNAJC12

Chr 10AR

DnaJ heat shock protein family (Hsp40) member C12

Also known as: HPANBH4, JDP1

NCBI Gene: 56521 ENSG00000108176 UniProt: Q9UKB3 OMIM: 606060

This gene encodes a co-chaperone that facilitates proper folding of biopterin-dependent aromatic amino acid hydroxylases including phenylalanine-4-hydroxylase, tyrosine 3-monooxygenase, and tryptophan hydroxylases. Mutations cause autosomal recessive mild hyperphenylalaninemia that is non-BH4-deficient, affecting amino acid metabolism pathways critical for neurotransmitter synthesis.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hyperphenylalaninemia, mild, non-BH4-deficientMIM #617384

Clinical highlights

Gene-disease validity (ClinGen)

hyperphenylalaninemia due to DNAJC12 deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.34

LOEUF

LOF

Mechanism· G2P

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GeneReview available — DNAJC12