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GeneE
8 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TOP6BL
TOP6B like initiator of meiotic double strand breaks
Chromosome 11 Β· 11q13.2
NCBI Gene: 79703Ensembl: ENSG00000173715.20HGNC: HGNC:26197UniProt: Q8N6T0
11PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
meiotic DNA double-strand break formationDNA secondary structure bindingreciprocal meiotic recombinationchromosomeHydatidiform Molecomplete hydatidiform molespermatogenic failure 88gout
✦AI Summary

TOP6BL (TOP6B-like initiator of meiotic double-strand breaks) is a critical component of the topoisomerase 6 complex required for meiotic recombination. Working together with SPO11, TOP6BL catalyzes programmed DNA double-strand breaks (DSBs) that initiate homologous recombination, essential for faithful chromosome 11 during meiosis 1. The protein mediates DNA cleavage and ligation cycles to relax supercoiled DNA and facilitate DNA decatenation. TOP6BL functions through interactions with accessory proteins including REC114 and participates in self-dimerization through its central region 2. Biallelic TOP6BL mutations cause severe reproductive defects in both sexes. In males, mutations result in non-obstructive azoospermia (NOA) through failure of meiotic DSB formation and meiotic arrest at the zygotene/pachytene stages 32. Female carriers experience unexplained infertility with oocyte maturation failure due to absent meiotic recombination 3. Pathogenic variants disrupt fertility through diverse mechanisms: some impair protein-protein interactions with SPO11 and REC114, while others compromise self-dimerization 2. Clinically, TOP6BL mutations are associated with recurrent androgenetic hydatidiform moles, where defective meiosis causes maternal chromosome 11 and fertilization by paternal-only genomes 45. TOP6BL variants contribute to preimplantation embryo arrest in assisted reproduction 6. Genetic screening is recommended for infertile patients with meiotic defects 7.

Sources cited
1
TOP6BL mutations abolish meiotic DSB formation causing non-obstructive azoospermia in males and unexplained infertility with oocyte maturation failure in females
PMID: 36732965
2
TOP6BL variants disrupt meiotic DSB formation through impaired REC114/SPO11 binding or self-dimerization defects, causing NOA with meiotic arrest at zygotene stage
PMID: 41211863
3
SPO11-TOP6BL topoisomerase-like complex catalyzes programmed DSBs that initiate meiotic recombination central to meiosis
PMID: 41850994
4
Biallelic TOP6BL mutations cause recurrent androgenetic complete hydatidiform moles through defective meiotic DSB formation leading to maternal chromosome extrusion
PMID: 30388401
5
TOP6BL mutations are among known genetic causes of recurrent hydatidiform moles, identified in women with gestational trophoblastic disease
PMID: 40319759
6
TOP6BL mutations are associated with preimplantation embryo arrest through disruption of DNA double-strand break formation
PMID: 41828362
7
TOP6BL loss-of-function variations cause meiotic disruption and human infertility in both sexes through impaired DSB formation
PMID: 41644825
Disease Associationsβ“˜21
Hydatidiform MoleOpen Targets
0.38Weak
complete hydatidiform moleOpen Targets
0.37Weak
spermatogenic failure 88Open Targets
0.35Weak
goutOpen Targets
0.18Weak
azoospermiaOpen Targets
0.08Suggestive
preeclampsiaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.07Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.07Suggestive
bronchial diseaseOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.06Suggestive
spermatogenic failure 48Open Targets
0.06Suggestive
Hydatidiform mole, recurrent, 4UniProt
Pathogenic Variants2
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)Likely pathogenic
Hydatidiform mole, recurrent, 4
β˜…β˜†β˜†β˜†β†’ Residue 425
NM_001302084.2(TOP6BL):c.25+1G>CPathogenic
Spermatogenic failure 88
β˜†β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
MEI1Protein interaction91%SPO11Protein interaction69%REC114Co-mentioned in literature38%CNTD1Shared pathway33%MSH4Shared pathway33%MLH3Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
96%
Lung
31%
Heart
29%
Ovary
26%
Liver
20%
Gene Interaction Network
Click a node to explore
TOP6BLMEI1SPO11REC114CNTD1MSH4MLH3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N6T0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.68–1.16]
RankingsWhere TOP6BL stands among ~20K protein-coding genes
  • #16,928of 20,598
    Most Researched11
  • #4,586of 5,498
    Most Pathogenic Variants2
  • #12,085of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedTOP6BL
Sources retrieved8 papers
Response timeβ€”
πŸ“„ Sources
8β–Ό
1
A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility.
PMID: 36732965
Sci Bull (Beijing) Β· 2020
1.00
2
Mechanisms of non-obstructive azoospermia caused by TOP6BL variants.
PMID: 41211863
Reproduction Β· 2025
0.88
3
Genetics and Genomics of Gestational Trophoblastic Disease.
PMID: 39322462
Hematol Oncol Clin North Am Β· 2024
0.75
4
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
PMID: 30388401
Am J Hum Genet Β· 2018
0.63
5
Genetic Mutations and Non-Genomic Dysregulation in Human Preimplantation Embryo Arrest.
PMID: 41828362
Int J Mol Sci Β· 2026
0.50