Gene Function

Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression (By similarity) Source: UniProt

Relationship to CMT

Unclassified AR
1 subtype
7q22.3

First described 2025

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT-NAMPT	Inheritanceautosomal recessive	ClassUnclassified Subtypes	OMIMn/a	Sentinel Publication A Sensory and Motor Neuropathy Caused by a Genetic Variant of NAMPT 2025 · 10.1126/sciadv.adx2407

Stored Identifiers

HGNC Aliases: PBEF1

hgnc_idHGNC:30092

ensembl_gene_idENSG00000105835

coords_grch38chr7:106248298-106291225

coords_grch37chr7:105888731-105926772

entrez_id10135

omim_gene608764

uniprot_idsP43490

refseq_accessionNM_182790

mane_refseqNM_005746.3

mane_ensemblENST00000222553.8

External recordsHGNC:30092OMIM 608764gnomADUniProt P43490ClinVar P/LPMANE NM_005746.3

ClinVar Variants

Pathogenic and likely pathogenic variants in NAMPT, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.