DNAJC12 gene

DnaJ heat shock protein family (Hsp40) member C12

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Hyperphenylalaninemia, mild, non-bh4-deficient

From UniProt:

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. [MIM:617384]

Cytogenetic Location: 10q21.3, which is the long (q) arm of chromosome 10 at position 21.3

Molecular Location: base pairs 67,796,665 to 67,838,179 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q21.3, which is the long (q) arm of chromosome 10 at position 21.3
  • HPANBH4
  • JDP1