Dnaj heat shock protein family (hsp40) member c12

DnaJ heat shock protein family (Hsp40) member C12 is a protein that in humans is encoded by the DNAJC12 gene. [4]

DNAJC12
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDNAJC12, JDP1, DnaJ heat shock protein family (Hsp40) member C12, HPANBH4
External IDsOMIM: 606060 MGI: 1353428 HomoloGene: 8492 GeneCards: DNAJC12
Gene location (Human)
Chr.Chromosome 10 (human)[1]
Band10q21.3Start67,796,669 bp[1]
End67,838,188 bp[1]
Orthologs
SpeciesHumanMouse
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 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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
  1. GRCh38: Ensembl release 89: ENSG00000108176 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Entrez Gene: DnaJ heat shock protein family (Hsp40) member C12". Retrieved 2016-02-22.

Further reading

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


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