GNPDA1

Description

The GNPDA1 (glucosamine-6-phosphate deaminase 1) is a protein-coding gene located on chromosome 5.

Glucosamine-6-phosphate isomerase 1 (GNPDA1) is an enzyme encoded by the GNPDA1 gene in humans. It plays a crucial role in the metabolism of sugar molecules and is involved in various cellular processes, including egg activation and tissue remodeling.

Glucosamine-6-phosphate isomerase 1 (GNPDA1) catalyzes the reversible conversion of alpha-D-glucosamine 6-phosphate (GlcN-6P) into beta-D-fructose 6-phosphate (Fru-6P) and ammonium ion, a regulatory step in the de novo synthesis of uridine diphosphate-N-acetyl-alpha-D-glucosamine (UDP-GlcNAc) via the hexosamine pathway. This enzyme couples deamination with aldo-keto isomerization, redirecting metabolic flux from UDP-GlcNAc towards Fru-6P. At high ammonium levels, GNPDA1 can drive amination and isomerization of Fru-6P toward hexosamines and UDP-GlcNAc synthesis. GNPDA1 plays a role in fine-tuning the metabolic fluctuations of cytosolic UDP-GlcNAc and their effects on hyaluronan synthesis during tissue remodeling. Additionally, GNPDA1 appears to trigger calcium oscillations in mammalian eggs, which are essential for egg activation and early embryonic development. (UniProtKB:Q64422, PubMed:21807125, PubMed:26887390)

GNPDA1 is also known as GNP1, GNPDA, GNPI, GPI, HLN.

Associated Diseases

WES Whole Exome Sequencing