GNPNAT1 Chromosome 14
Glucosamine-phosphate N-acetyltransferase 1
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What This Gene Does
Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in endoplasmic reticulum-Golgi intermediate compartment and late endosome. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
GCN5 related N-acetyltransferases
Locus Type
gene with protein product
Location
14q22.1
Ensembl
ENSG00000100522
Associated Conditions (2)
Rhizomelic dysplasia
Ain-Naz type
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139964469 | Health Risk | Pathogenic | Rhizomelic dysplasia, Ain-Naz type, Rhizomelic dysplasia |