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
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q21.3 Start 67,796,669 bp[1] End 67,838,188 bp[1]
Orthologs
Species	Human	Mouse
Entrez	56521	30045
Ensembl	ENSG00000108176	ENSMUSG00000036764
UniProt	Q9UKB3	Q9R022
RefSeq (mRNA)	NM_021800 NM_201262	NM_001253685 NM_013888
RefSeq (protein)	NP_068572 NP_957714	NP_001240614 NP_038916
Location (UCSC)	Chr 10: 67.8 – 67.84 Mb	n/a
PubMed search	[2]	[3]
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. ^[4]

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 (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency.

References[]

Further reading[]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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