Recombinant Human Dehydrodolichyl diphosphate synthase (DHDDS)

1. Study describe a patient presenting with severe multisystem disease associated with DHDDS deficiency. As retinitis pigmentosa is the only clinical sign in previously reported cases, this report broadens the spectrum of phenotypes associated with this condition. PMID: 27343064
2. findings show that eukaryotic cis-PT is composed of the NgBR and hCIT subunits. The strong conservation of the RXG motif among NgBR orthologs indicates that this subunit is critical for the synthesis of polyprenol diphosphates and cellular function. PMID: 28842490
3. We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry PMID: 25255364
4. A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin. PMID: 24664694
5. A missense mutation in DHDDS is associated with autosomal-recessive retinitis pigmentosa. PMID: 21295282
6. A variant in DHDDS is associated with retinitis pigmentosa. PMID: 21295283
7. identification and amino acid sequence expressed in yeast PMID: 12591616
8. identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions PMID: 14652022
9. molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis PMID: 15850770

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HGNC: 20603

OMIM: 608172

KEGG: hsa:79947

STRING: 9606.ENSP00000353104

UniGene: Hs.369385