NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit

2 disorders 2 no genetic record 6q22.1 gene with protein product

HGNC:21042 Monarch NCBI Gene 116150 ENSG00000153989 UniProt Q96E22 OMIM 610463

Previous symbols: C6orf68. Aliases: MGC7199, NgBR, TANGO14.

Normal function · from ai-gene-review (Q96E22, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Autosomal Dominant Non-Syndromic Intellectual Disability	no genetic record	subtype: MRD55
Retinitis Pigmentosa 59	no genetic record germline partial loss of function	mechanism: DHDDS Cis-Prenyltransferase Partial Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
progressive myoclonus epilepsy MONDO:0020074	AD	Definitive 2025-05-20	Photosensitive Epilepsy not named Progressive Myoclonus Epilepsy not named

Mechanism modules · computed from kb/

photoreceptor_degeneration via Retinitis Pigmentosa 59

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.