NMNAT1

nicotinamide nucleotide adenylyltransferase 1

2 disorders 2 causative 1p36.22 gene with protein product

HGNC:17877 Monarch NCBI Gene 64802 ENSG00000173614 UniProt Q9HAN9 OMIM 608700

Previous symbols: LCA9. Aliases: NMNAT, PNAT1.

Normal function · from ai-gene-review (Q9HAN9, commit e7236877cf14) · 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
Leber Congenital Amaurosis 9	causative germline partial loss of function	mechanism: NMNAT1 Hypomorphic Loss of Function
SHILCA Syndrome	causative germline partial loss of function	mechanism: NMNAT1 Severe Hypomorphic Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
NMNAT1-related retinopathy MONDO:0800101	AR	Definitive 2021-11-04	no dismech entry

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.