LDHAL6B: Lactate Dehydrogenase A Like 6B
A testis-specific lactate dehydrogenase gene with potential roles in spermatogenesis and male infertility
Gene Information Card
| Symbol | LDHAL6B |
|---|---|
| Full Name | Lactate Dehydrogenase A Like 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.2 |
| NCBI Gene ID | 160287 ncbi.nlm.nih.gov/gene/160287 |
| Ensembl ID | ENSG00000166888 |
| UniProt ID | Q6ZMR3 |
| OMIM ID | 612933 |
| HGNC ID | 23088 |
| Aliases | LDH6B, LDHAL6, LDHAL6B |
Description
LDHAL6B (lactate dehydrogenase A like 6B) is a protein-coding gene located on chromosome 15q22.2. It encodes a member of the lactate dehydrogenase family, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+. LDHAL6B is predominantly expressed in testis and is thought to play a role in spermatogenesis. The gene is part of a cluster of LDHAL genes on chromosome 15.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered LDHAL6B expression may impair sperm energy metabolism | Limited evidence; expression studies in testicular tissue |
| Spermatogenic failure | Potential role in glycolysis during spermatogenesis | Hypothetical based on testis-specific expression |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | Expressed in mature sperm |
| Testicular germ cells | N/A | Detected in spermatocytes and spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Unknown; predicted missense |
| c.100C>T | SNV | <0.01% | Unknown; predicted synonymous |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • L-lactate dehydrogenase activity | • NAD binding |
| • Glycolytic process | • Cytoplasm |
Pathways
• Glycolysis / Gluconeogenesis
• Pyruvate metabolism
Protein Summary
The LDHAL6B protein is a lactate dehydrogenase isozyme that catalyzes the reversible conversion of L-lactate to pyruvate, using NAD+ as a cofactor. It is specifically expressed in testis and is involved in energy metabolism during spermatogenesis. The protein localizes to the cytoplasm and is thought to contribute to the glycolytic pathway in male germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LDHAL6B Knockout HEK293 Cell Line | EDJ-KQ1517 | Human | 92483 | Details Get a Quote |
| LDHAL6B Knockout HeLa Cell Line | EDJ-KQ57841 | Human | 92483 | Details Get a Quote |
| LDHAL6B Knockout A-549 Cell Line | EDJ-KQ66337 | Human | 92483 | Details Get a Quote |
| LDHAL6B Knockout HCT 116 Cell Line | EDJ-KQ74763 | Human | 92483 | Details Get a Quote |
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