Product details
Catalog number HA721876
Price for HA721876
Size / count 100 µL
Galactose-1-phosphate uridylyltransferase (or GALT, G1PUT) is an enzyme responsible for converting ingested galactose to glucose. Deficiency of GALT causes classic galactosemia. Galactosemia is an autosomal recessive inherited disorder detectable in newborns and childhood. Classical galactosemia (G/G) is caused by a deficiency in GALT activity, whereas the more common clinical manifestations, Duarte (D/D) and the Duarte/Classical variant (D/G) are caused by the attenuation of GALT activity. Symptoms include ovarian failure, developmental coordination disorder (difficulty speaking correctly and consistently), and neurologic deficits. A single mutation in any of several base pairs can lead to deficiency in GALT activity. Screening has mostly eliminated neonatal death by G/G galactosemia, but the disease, due to GALT’s role in the biochemical metabolism of ingested galactose (which is toxic when accumulated) to the energetically useful glucose, can certainly be fatal. However, those afflicted with galactosemia can live relatively normal lives by avoiding milk products and anything else containing galactose (because it cannot be metabolized), but there is still the potential for problems in neurological development or other complications, even in those who avoid galactose.
The catalog number for GALT Recombinant Rabbit Monoclonal Antibody [PSH02-88] is HA721876.
GALT Recombinant Rabbit Monoclonal Antibody [PSH02-88] is available in the following size(s): 100 µL.
GALT Recombinant Rabbit Monoclonal Antibody [PSH02-88] is currently made to order / not held in immediate stock. Contact us for lead time.
Galactose-1-phosphate uridylyltransferase (or GALT, G1PUT) is an enzyme responsible for converting ingested galactose to glucose. Deficiency of GALT causes classic galactosemia. Galactosemia is an autosomal recessive inherited disorder detectable in newborns and childhood. Classical galactosemia (G/
Storage conditions depend on the specific reagent and are listed on the product datasheet, with most antibodies and proteins requiring -20°C unless stated otherwise. It is your responsibility to store the product correctly immediately upon receipt; damage from improper storage after delivery is not eligible for replacement.
Animal-origin-free status, where applicable, is noted on the datasheet under formulation details.
If you’re outside the EU, UK, or USA, you’re responsible for customs clearance and any related taxes or fees. We provide the standard import documents, such as the Commercial Invoice, Packing List, and Airway Bill, in advance, so let us know early if your customs office needs anything additional for this specific product.