DNAJC12 wt Allele

Preferred Label : DNAJC12 wt Allele;

NCIt synonyms : DnaJ Heat Shock Protein Family (Hsp40) Member C12 wt Allele; DnaJ/Hsp40 Homolog, Subfamily C, Member 12 Gene; DnaJ (Hsp40) Homolog, Subfamily C, Member 12 Gene; J Domain Containing Protein 1 (JDP1) Gene; HPANBH4; JDP1;

NCIt definition : Human DNAJC12 wild-type allele is located in the vicinity of 10q21.3 and is approximately 42 kb in length. This allele, which encodes DnaJ homolog subfamily C member 12 protein, is involved in protein maturation. Mutation of the gene is associated with mild non-BH4-deficient hyperphenylalaninemia.;

NCIt note : Two transcript variants generated by alternative use of polyadenylation sites and encoding distinct isoforms have been identified for the DNAJC12 gene.;

GenBank Accession Number : AF176012;

Details

Origin ID

C200858;

OMIM relation
- Dnaj/hsp40 homolog, subfamily C, member 12 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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