NUS1

Description

The NUS1 (NUS1 dehydrodolichyl diphosphate synthase subunit) is a protein-coding gene located on chromosome 6.

NUS1 forms a complex with DHDDS, known as dehydrodolichyl diphosphate synthase (DDS). This complex is crucial for the biosynthesis of dolichol monophosphate (Dol-P), a key component in protein glycosylation. Both NUS1 and DHDDS contribute to the enzyme's activity, which involves combining multiple copies of isopentenyl pyrophosphate (IPP) to produce dehydrodolichyl diphosphate (Dedol-PP). Dedol-PP serves as a precursor for dolichol phosphate, which acts as a sugar carrier within the endoplasmic reticulum (ER). NUS1 also synthesizes long-chain polyprenols, particularly those with C95 and C100 chain lengths. Furthermore, NUS1 regulates the glycosylation and stability of nascent NPC2, a protein involved in cholesterol trafficking. NUS1 acts as a specific receptor for the N-terminus of Nogo-B, a regulator in the nervous and cardiovascular systems.

NUS1 is also known as C6orf68, CDG1AA, MGC:7199, MRD55, NgBR, TANGO14.

Associated Diseases

• Congenital disorder of glycosylation, type IAA
• Non-specific early-onset epileptic encephalopathy
• Mental retardation, autosomal dominant 55, with seizures