DNAJC12
Description
The DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12) is a protein-coding gene located on chromosome 10.
The DNAJC12 gene encodes a protein that belongs to the HSP40/DnaJ protein family, which is involved in protein folding, assembly, and export. Two different forms of the protein are produced from this gene. Mutations in the DNAJC12 gene can cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency.
DNAJC12 is also known as HPANBH4, JDP1.
