Gene Details: GALT
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General Information
Gene Name: GALT (Galactose-1-phosphate uridylyltransferase)
Synonym:
Short Names: Gal-1-P uridylyltransferase;
Alternative Names: UDP-glucose--hexose-1-phosphate uridylyltransferase;
Notes:
- Plays a role in galactose metabolism by catalyzing the second step of the Leloir pathway of galactose metabolism
- Deficiency of GALT causes classic galactosemia, an autosomal recessive inherited disorder.
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human GALT. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human GALT, or galactose-1-phosphate uridylyltransferase, is a crucial enzyme involved in the metabolism of galactose, a type of sugar. GALT catalyzes the conversion of galactose-1-phosphate and UDP-glucose into UDP-galactose and glucose-1-phosphate. This reaction is a key step in the Leloir pathway, which is essential for the proper utilization and detoxification of galactose in the body. The enzyme's activity ensures that galactose, derived from dietary lactose, is efficiently metabolized and used for energy production and biosynthetic processes. ### Reaction Pathways GALT operates in the Leloir pathway, which is the primary biochemical route for galactose metabolism. After galactose is phosphorylated to galactose-1-phosphate by galactokinase (GALK), GALT facilitates the exchange of the phosphate group with glucose from UDP-glucose, producing UDP-galactose and glucose-1-phosphate. The UDP-galactose is then converted to UDP-glucose by UDP-galactose 4'-epimerase (GALE), allowing it to re-enter the pathway for energy production or glycogen synthesis. This pathway is vital for managing galactose levels in the body and preventing the accumulation of toxic intermediates. ### Location GALT is predominantly found in the liver, where it plays a critical role in galactose metabolism. However, the enzyme is also expressed in other tissues, including the kidneys and red blood cells, reflecting the systemic importance of galactose metabolism. The liver's central role in processing dietary sugars underscores the importance of GALT in maintaining metabolic homeostasis. ### Diseases Deficiency or dysfunction of GALT leads to a genetic disorder known as classic galactosemia. This condition is characterized by the accumulation of galactose-1-phosphate and other toxic metabolites in the body, leading to symptoms such as jaundice, liver enlargement, cataracts, intellectual disability, and, if untreated, life-threatening complications. Classic galactosemia is typically diagnosed in infancy, and management involves strict dietary restriction of galactose to prevent the harmful effects of the enzyme deficiency. Despite dietary management, some individuals with galactosemia may still experience long-term complications, including developmental delays and reproductive issues, highlighting the need for continued research and therapeutic development.
Catalytic Activity

Reaction and Disease Links
EC # (IUBMB):
2.7.7.12
Brenda:
2.7.7.12
KEGG: 2592
Rhea:
13989
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
TCF25 | 0.472886 |
UBE2I | 0.470090 |
SSU72 | 0.458674 |
XRCC5 | 0.452180 |
NCOR1 | 0.449163 |
YY1 | 0.448407 |
SON | 0.447553 |
HNRNPK | 0.445672 |
SNRNP70 | 0.445395 |
RBM39 | 0.441633 |
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