GALT Gene: Galactose-1-Phosphate Uridylyltransferase

Genetic variants in GALT cause classic galactosemia, a disorder of galactose metabolism.

Gene Information Card

Symbol GALT
Full Name galactose-1-phosphate uridylyltransferase
Gene Type protein coding
Chromosomal Location 9p13.3
NCBI Gene ID 2592 ncbi.nlm.nih.gov/gene/2592
Ensembl ID ENSG00000113924
UniProt ID P07902
OMIM ID 606999
HGNC ID 4155
Aliases GALT, GalT, galactosemia

Description

The GALT gene encodes galactose-1-phosphate uridylyltransferase, a key enzyme in the Leloir pathway of galactose metabolism. This enzyme catalyzes the conversion of UDP-glucose and galactose-1-phosphate to UDP-galactose and glucose-1-phosphate. Defects in this enzyme lead to classic galactosemia, an autosomal recessive metabolic disorder characterized by an inability to metabolize galactose properly, resulting in toxic accumulation of galactose-1-phosphate and other metabolites.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Classic Galactosemia Loss-of-function mutations in GALT lead to deficiency of galactose-1-phosphate uridylyltransferase, causing accumulation of galactose-1-phosphate and galactitol, leading to toxic effects in liver, kidney, and brain. OMIM 230400; ClinVar
Galactosemia, Duarte Variant Specific variants (e.g., p.Asn314Asp) reduce enzyme activity partially, causing a milder form of galactosemia with variable clinical presentation. ClinVar; PMID: 23430936
Galactosemia, Clinical Variants Other rare variants (e.g., p.Ser135Leu, p.Gln188Arg) cause varying degrees of enzyme deficiency, leading to classic or variant galactosemia. ClinVar; PMID: 23430936

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 15.2 Medium
Kidney 10.5 Medium
Small Intestine 8.3 Low
Pancreas 6.1 Low
Brain 3.2 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 (liver) 12.4 High expression
A549 (lung) 5.6 Moderate
MCF7 (breast) 3.1 Low
K562 (leukemia) 2.0 Low
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
p.Gln188Arg Missense ~70% of classic galactosemia alleles in Caucasian populations Severe enzyme deficiency, classic galactosemia
p.Lys285Asn Missense Common in African American populations Severe enzyme deficiency, classic galactosemia
p.Ser135Leu Missense Rare Moderate enzyme deficiency, variant galactosemia
p.Asn314Asp Missense Common in Duarte variant Partial enzyme activity, milder phenotype
c.820+1G>A Splice site Rare Splicing defect, severe enzyme deficiency
Mutation functional classification

Loss of Function (LOF)

Most pathogenic GALT mutations are loss-of-function, leading to reduced or absent enzyme activity, causing galactosemia.

Gain of Function (GOF)

No gain-of-function mutations have been reported for GALT.

Dominant Negative (DN)

GALT is a homodimer; some missense mutations may exert a dominant-negative effect by interfering with the wild-type subunit, but this is not well established.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/2592
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GALT

Gene Ontology (GO)

• galactose-1-phosphate uridylyltransferase activity • UDP-glucose:galactose-1-phosphate uridylyltransferase activity
• metal ion binding • galactose metabolic process
• carbohydrate metabolic process

Pathways

• Galactose metabolism (KEGG: hsa00052)
• Leloir pathway

Protein Summary

The GALT protein is a homodimeric enzyme of 387 amino acids (43 kDa) that catalyzes the second step of the Leloir pathway. It requires a divalent metal ion (e.g., zinc) for activity. The enzyme has two domains: an N-terminal domain involved in substrate binding and a C-terminal domain that interacts with UDP-glucose. Mutations affecting the active site or dimerization lead to enzyme deficiency and galactosemia.

Related Services

Knockout Cell Line
Point Mutation Cell Line
Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
C1GALT1 Knockout HEK293 Cell Line EDJ-KQ3097 Human 56913 Details Get a Quote
B4GALT2 Knockout HEK293 Cell Line EDJ-KQ3582 Human 8704 Details Get a Quote
B4GALT7 Knockout HEK293 Cell Line EDJ-KQ3867 Human 11285 Details Get a Quote
C1GALT1C1 Knockout HEK293 Cell Line EDJ-KQ3969 Human 29071 Details Get a Quote
B4GALT1 Knockout HEK293 Cell Line EDJ-KQ4707 Human 2683 Details Get a Quote
B4GALT3 Knockout HEK293 Cell Line EDJ-KQ6329 Human 8703 Details Get a Quote
B3GALT2 Knockout HEK293 Cell Line EDJ-KQ6331 Human 8707 Details Get a Quote
B3GALT1 Knockout HEK293 Cell Line EDJ-KQ6332 Human 8708 Details Get a Quote
B4GALT4 Knockout HEK293 Cell Line EDJ-KQ6334 Human 8702 Details Get a Quote
B4GALT6 Knockout HEK293 Cell Line EDJ-KQ6549 Human 9331 Details Get a Quote
B4GALT5 Knockout HEK293 Cell Line EDJ-KQ6551 Human 9334 Details Get a Quote
B3GALT5 Knockout HEK293 Cell Line EDJ-KQ7004 Human 10317 Details Get a Quote
COLGALT2 Knockout HEK293 Cell Line EDJ-KQ7842 Human 23127 Details Get a Quote
A3GALT2 Knockout HEK293 Cell Line EDJ-KQ8297 Human 127550 Details Get a Quote
B3GALT6 Knockout HEK293 Cell Line EDJ-KQ8967 Human 126792 Details Get a Quote
Displaying Records 1 To 15 Of 84 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/2592
OMIM https://www.omim.org/entry/606999
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4155
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000113924
UniProt https://www.uniprot.org/uniprot/P07902
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=GALT%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=GALT
Contact Us
*
*
*
*
How did you hear about us：
✖ service online