PGAM4
Phosphoglycerate Mutase 4 (Testis-Specific)
Gene Information Card
| Symbol | PGAM4 |
|---|---|
| Full Name | Phosphoglycerate Mutase Family Member 4 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 441531 ncbi.nlm.nih.gov/gene/441531 |
| Ensembl ID | ENSG00000126883 |
| UniProt ID | Q8N0Y2 |
| OMIM ID | 300923 |
| HGNC ID | 28779 |
| Aliases | PGAM-B, PGAM3, dJ1009E24.1 |
Description
PGAM4 encodes a testis-specific phosphoglycerate mutase isozyme that catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate in glycolysis. It is essential for sperm energy metabolism and male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Deficiency in PGAM4 disrupts glycolysis in sperm, impairing energy production and motility. | ClinVar, OMIM |
| Azoospermia | Loss-of-function mutations reduce sperm count and viability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 78.2 | High |
| Fallopian tube | 0.5 | Not detected |
| Prostate | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | 78.2 | Testis-specific expression |
| HEK293 | 0.1 | Low/absent |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, reduced protein expression |
| c.374G>A (p.Arg125His) | Missense | Rare | Impaired catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1Thr and p.Arg125His reduce or abolish enzymatic activity, leading to impaired glycolysis in sperm.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not applicable; PGAM4 is X-linked and hemizygous in males.
View complete mutation data：
Gene Ontology (GO)
| • phosphoglycerate mutase activity (GO:0004619) | • glycolytic process (GO:0006096) |
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
Pathways
• Glycolysis / Gluconeogenesis (KEGG: hsa00010)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PGAM4 is a 254-amino acid protein that functions as a homodimer, catalyzing the reversible conversion of 2-phosphoglycerate to 3-phosphoglycerate. It is highly expressed in testis and essential for sperm motility and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PGAM4 Knockout HEK293 Cell Line | EDJ-KQ52354 | Human | 441531 | Details Get a Quote |
| PGAM4 Knockout HeLa Cell Line | EDJ-KQ60432 | Human | 441531 | Details Get a Quote |
| PGAM4 Knockout A-549 Cell Line | EDJ-KQ68901 | Human | 441531 | Details Get a Quote |
| PGAM4 Knockout HCT 116 Cell Line | EDJ-KQ77261 | Human | 441531 | Details Get a Quote |
