DNAJC12
Involvement in disease
Hyperphenylalaninemia, mild, non-BH4-deficient
HPANBH4
An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.
Cellular localization
- Isoform a
- Cytoplasm
Alternative names
JDP1, DNAJC12, DnaJ homolog subfamily C member 12, J domain-containing protein 1