GNPNAT1
Involvement in disease
Rhizomelic dysplasia, Ain-Naz type
RHZDAN
An autosomal recessive skeletal dysplasia characterized by short stature, marked rhizomelic shortening of the limbs, platyspondyly, hip dysplasia, and large hands and feet relative to height.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2.
Sequence Similarities
Belongs to the acetyltransferase family. GNA1 subfamily.
Cellular localization
- Golgi apparatus membrane
- Peripheral membrane protein
- Endosome membrane
- Peripheral membrane protein
Alternative names
GNA1, GNPNAT1, Glucosamine 6-phosphate N-acetyltransferase, Phosphoglucosamine acetylase, Phosphoglucosamine transacetylase