Gene Details: GALK2


1 / 1

General Information

Gene Name: GALK2 (N-acetylgalactosamine kinase)
Synonym: GK2
Short Names:
Alternative Names: GalNAc kinase;Galactokinase 2;

Notes:


Description from Dr.Glyco-GPT:

Write a 100-350 word essay about the enzyme human GALK2. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings

### Function

Human GALK2 (galactokinase 2) is an enzyme involved in the metabolism of galactose, specifically catalyzing the phosphorylation of galactose to galactose-1-phosphate. This reaction is an essential step in the Leloir pathway, which is the primary pathway for the conversion of galactose to glucose-1-phosphate, a substrate that can be utilized in glycolysis. GALK2 ensures that free galactose is rapidly converted into a form that can be metabolized or used in various biosynthetic pathways .

### Reaction Pathways

GALK2 participates in the Leloir pathway, a crucial metabolic route for processing dietary galactose. The enzyme catalyzes the transfer of a phosphate group from ATP to the hydroxyl group on the 1-position of galactose, forming galactose-1-phosphate. This product is then further processed by other enzymes in the pathway, ultimately leading to the production of glucose-1-phosphate. This pathway is vital for energy production, especially in tissues that utilize galactose as a significant energy source .

### Location

GALK2 is predominantly localized in the cytoplasm of cells, where it interacts with galactose that has been transported into the cell. Its cytoplasmic location is crucial for its role in galactose metabolism, as it ensures that galactose is efficiently phosphorylated and funneled into the metabolic pathways necessary for energy production and biosynthesis .

### Diseases

Deficiencies in GALK2 activity can lead to issues similar to those caused by deficiencies in GALK1, such as galactosemia, though GALK2-related galactosemia is rarer. Galactosemia is a metabolic disorder that results in the accumulation of galactose in the blood, leading to symptoms like cataracts, liver damage, and intellectual disability if untreated. Dietary management is the primary treatment, focusing on reducing galactose intake to prevent toxic accumulation .

In summary, GALK2 is an essential enzyme in galactose metabolism, playing a key role in converting galactose to a usable form within the cell. Its function is critical for energy production and normal metabolic processes, with deficiencies leading to metabolic disorders.

Catalytic Activity

Reaction Image

Reaction and Disease Links

EC # (IUBMB): 2.7.1.157
Brenda: 2.7.1.157
OMIM: 137028
KEGG: 2585
Rhea: 12617
Reactome :

Transcript levels (Cell lines and Single cell data) URL


CRISPR-knockout

CRISPR-activation

CRISPR-inactivation


Top 10 TFs

TF Score
TCF25 0.577611
UBE2I 0.568654
SSU72 0.560257
YY1 0.558751
XRCC5 0.556663
SON 0.552369
HNRNPK 0.549967
RBM39 0.546556
NCOR1 0.546049
SNRNP70 0.539464


Licensing: CC BY 4.0. You are fee to copy, redistribute, remix, transform and build upon this material for commercial and non-commercial purposes, provided source of information is attributed/credited.