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]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B4 Start 63,218,222 bp[2] End 63,246,355 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans cerebellar vermis cerebellar hemisphere pons Region I of hippocampus proper right adrenal gland left adrenal gland hypothalamus superior vestibular nucleus kidney tubule Top expressed in kidney pineal gland dorsal tegmental nucleus ventral tegmental area islet of Langerhans proximal tubule facial motor nucleus arcuate nucleus retinal pigment epithelium habenula More reference expression data BioGPS n/a
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 Chr 10: 63.22 – 63.25 Mb PubMed search [3] [4]
Wikidata
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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

Further reading

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

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 17 October 2022, at 11:08