LDHAL6A Gene - Lactate Dehydrogenase A Like 6A
Comprehensive genomic and functional overview of LDHAL6A
Gene Information Card
| Symbol | LDHAL6A |
|---|---|
| Full Name | Lactate Dehydrogenase A Like 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 160287 ncbi.nlm.nih.gov/gene/160287 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q6ZMR3 |
| OMIM ID | 612933 |
| HGNC ID | 23095 |
| Aliases | LDHAL6, LDH6A, LDHAL6A |
Description
LDHAL6A (Lactate Dehydrogenase A Like 6A) is a protein-coding gene located on chromosome 11p15.1. It encodes a member of the lactate dehydrogenase family, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+. LDHAL6A is specifically expressed in testis and is thought to play a role in spermatogenesis. The gene is also known as LDHAL6, LDH6A, or LDHAL6A.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in energy metabolism during spermatogenesis; reduced expression may impair sperm motility | Expression studies in testis (UniProt, NCBI) |
| Male infertility | Altered LDHAL6A activity may affect lactate/pyruvate balance in sperm | Association studies (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.2 | Low |
| Skin | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SHSY5Y | 0.0 | No detectable expression |
| HEK293 | 0.0 | No detectable expression |
| Testicular cell lines | Not available | Not available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.100C>T) are predicted to cause premature truncation and loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • L-lactate dehydrogenase activity | • NAD binding |
| • Cytoplasm | • Glycolytic process |
Pathways
• Glycolysis / Gluconeogenesis
• Pyruvate metabolism
Protein Summary
The LDHAL6A protein (UniProt Q6ZMR3) is a 332-amino acid enzyme belonging to the lactate dehydrogenase family. It catalyzes the reversible conversion of L-lactate to pyruvate with NAD+ as cofactor. The protein is predominantly expressed in testis and is involved in energy production during spermatogenesis. Its structure includes a conserved NAD-binding domain and a substrate-binding domain typical of LDH enzymes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDHAL6A Knockout HEK293 Cell Line | EDJ-KQ918 | Human | 160287 | Details Get a Quote |
| LDHAL6A Knockout HeLa Cell Line | EDJ-KQ58810 | Human | 160287 | Details Get a Quote |
| LDHAL6A Knockout A-549 Cell Line | EDJ-KQ67294 | Human | 160287 | Details Get a Quote |
| LDHAL6A Knockout HCT 116 Cell Line | EDJ-KQ75693 | Human | 160287 | Details Get a Quote |
