Dnaj heat shock protein family (hsp40) member c12

DNAJC12
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2CTQ
Identifiers
Aliases	DNAJC12, JDP1, DnaJ heat shock protein family (Hsp40) member C12, HPANBH4
External IDs	OMIM: 606060; MGI: 1353428; HomoloGene: 8492; GeneCards: DNAJC12; OMA:DNAJC12 - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	67,838,188 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	63,246,355 bp
RNA expression pattern
	Top expressed in
	islet of Langerhans; ; cerebellar vermis; ; cerebellar hemisphere; ; right hemisphere of cerebellum; ; pars compacta; ; pons; ; beta cell; ; Region I of hippocampus proper; ; right adrenal gland; ; left adrenal gland;
	Top expressed in
	pineal gland; ; human kidney; ; right kidney; ; dorsal tegmental nucleus; ; ventral tegmental area; ; islet of Langerhans; ; proximal tubule; ; facial motor nucleus; ; central gray substance of midbrain; ; arcuate nucleus;
	More reference expression data
	n/a
Orthologs
	56521
	30045
	ENSG00000108176
	ENSMUSG00000036764
	Q9UKB3
	Q9R022
	NM_021800; NM_201262
	NM_001253685; NM_013888
	NP_068572; NP_957714
	NP_001240614; NP_038916
	Wikidata
View/Edit Human	View/Edit Mouse

DnaJ heat shock protein family (Hsp40) member C12 is a protein that in humans is encoded by the DNAJC12 gene. ^[5]

Function

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.

Pathology

Mutations of the gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108176 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036764 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: DnaJ heat shock protein family (Hsp40) member C12". Retrieved 2016-02-22.

Dnaj heat shock protein family (hsp40) member c12

Contents

Function

Pathology

References

Further reading