Dnaj heat shock protein family (hsp40) member c12
| DNAJC12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
[edit]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
[edit]Mutations of the gene cause mild non-BH4-deficient hyperphenylalaninemia (HPANBH4), also called DNAJC12-deficient hyperphenylalaninemia or DNAJC12 deficiency.
References
[edit]- ^ 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.
Further reading
[edit]This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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