MDH1B
Malate Dehydrogenase 1B
Gene Information Card
| Symbol | MDH1B |
|---|---|
| Full Name | Malate Dehydrogenase 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 130752 ncbi.nlm.nih.gov/gene/130752 |
| Ensembl ID | ENSG00000162923 |
| UniProt ID | Q9Y6L7 |
| OMIM ID | 614202 |
| HGNC ID | 28700 |
| Aliases | MDH1B, MDH1B1, MDH1B2 |
Description
MDH1B (malate dehydrogenase 1B) is a protein-coding gene located on chromosome 2q31.1. It encodes an enzyme that catalyzes the reversible oxidation of malate to oxaloacetate using NAD+/NADH as a cofactor, playing a role in the malate-aspartate shuttle and cellular metabolism. The gene is expressed in various tissues and has been implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Altered malate-aspartate shuttle activity affecting energy metabolism | ClinVar, OMIM |
| Type 2 diabetes | Dysregulation of NAD+/NADH balance and insulin secretion | ClinVar |
| Hepatocellular carcinoma | Overexpression linked to increased proliferation and metabolic reprogramming | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.7 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| MCF7 | 5.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | 0.01% | Reduced enzyme activity |
| c.832G>A (p.Gly278Arg) | Missense | 0.005% | Altered substrate binding |
| c.1123_1124insA | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt catalytic activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • malate metabolic process (GO:0006108) | • oxidoreductase activity (GO:0016616) |
| • mitochondrion (GO:0005739) |
Pathways
• Malate-aspartate shuttle
• Citric acid cycle (TCA cycle)
• Gluconeogenesis
Protein Summary
MDH1B encodes a 334-amino acid protein belonging to the malate dehydrogenase family. It localizes to the mitochondrion and cytosol, catalyzing the interconversion of malate and oxaloacetate. The enzyme is essential for the malate-aspartate shuttle, facilitating NADH transfer across the mitochondrial membrane. Structural studies indicate a conserved NAD-binding domain and catalytic residues critical for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MDH1B Knockout HEK293 Cell Line | EDJ-KQ9250 | Human | 130752 | Details Get a Quote |
| MDH1B Knockout HeLa Cell Line | EDJ-KQ34601 | Human | 130752 | Details Get a Quote |
| MDH1B Knockout A-549 Cell Line | EDJ-KQ35846 | Human | 130752 | Details Get a Quote |
| MDH1B Knockout HCT 116 Cell Line | EDJ-KQ35847 | Human | 130752 | Details Get a Quote |
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