GNPNAT1

Chr 14q22.1

glucosamine-phosphate N-acetyltransferase 1

Aliases:: Gpnat1, FLJ10607
MANE:: ENST00000216410.8

OMIM: 616510 ↗NCBI: 64841 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

rhizomelic dysplasia, Ain-Naz type
0.51
endocarditis
0.26
myalgic encephalomeyelitis/chronic fatigue syndrome
0.26
Talipes equinovarus
0.18
neurodegenerative disease
0.11
breast cancer
0.10
prostate carcinoma
0.09
breast carcinoma
0.09
neoplasm
0.09
lung carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.