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GeneE
10 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.
LRRC23
leucine rich repeat containing 23
Chromosome 12 Β· 12p13.31
NCBI Gene: 10233Ensembl: ENSG00000010626.16HGNC: HGNC:19138UniProt: A8K8K2
19PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingflagellated sperm motilityradial spoke assemblycytoplasmspermatogenic failure 92azoospermianeoplasmacute myeloid leukemia
✦AI Summary

LRRC23 (leucine rich repeat containing 23) is essential for sperm motility and male fertility, functioning as a critical component of the radial spoke 3 (RS3) head structure in sperm flagella 1. The protein plays a vital role in the proper assembly of RS3 and the bridge structure between RS2 and RS3, which are T-shaped multiprotein complexes that modulate flagellar motility 1. LRRC23 interacts with RS head protein RSPH9, and this interaction is crucial for RS3 head assembly 1. Loss-of-function mutations in LRRC23 cause asthenozoospermia (reduced sperm motility) and male infertility by disrupting RS3 assembly and flagellar structure 23. Cryo-electron tomography studies demonstrate that LRRC23 deficiency results in absence of the RS3 head and sperm-specific RS2-RS3 bridge structure 1. The protein has also been identified as a master regulator gene in severe persistent asthma, suggesting broader ciliary functions beyond reproduction 4. Clinically, LRRC23 mutations are associated with spermatogenic failure 92, but affected males can achieve successful fertility through assisted reproductive techniques like intracytoplasmic sperm injection 23.

Sources cited
1
LRRC23 is an RS3 head component essential for assembly and flagellar motility, interacts with RSPH9
PMID: 38091523
2
Novel LRRC23 mutations cause asthenozoospermia with successful IVF outcomes
PMID: 39054792
3
LRRC23 deficiency causes male infertility with asthenozoospermia by disrupting radial spoke assembly
PMID: 37804054
4
LRRC23 identified as master regulator gene in severe persistent asthma
PMID: 32828590
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spermatogenic failure 92Open Targets
0.44Moderate
azoospermiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
acute myeloid leukemiaOpen Targets
0.10Weak
spermatogenic failure 83Open Targets
0.09Suggestive
spermatogenic failure 19Open Targets
0.09Suggestive
spermatogenic failure 43Open Targets
0.09Suggestive
spermatogenic failure 45Open Targets
0.09Suggestive
spermatogenic failure 49Open Targets
0.09Suggestive
spermatogenic failure 82Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.09Suggestive
spermatogenic failure 18Open Targets
0.09Suggestive
spermatogenic failure 27Open Targets
0.09Suggestive
spermatogenic failure 46Open Targets
0.09Suggestive
spermatogenic failure 72Open Targets
0.09Suggestive
spermatogenic failure 16Open Targets
0.09Suggestive
spermatogenic failure 21Open Targets
0.09Suggestive
spermatogenic failure 58Open Targets
0.09Suggestive
spermatogenic failure 79Open Targets
0.09Suggestive
spermatogenic failure 94Open Targets
0.09Suggestive
Spermatogenic failure 92UniProt
Pathogenic Variants2
NM_001135217.2(LRRC23):c.376C>T (p.Arg126Ter)Pathogenic
Spermatogenic failure 92
β˜†β˜†β˜†β˜†2024β†’ Residue 126
NM_001135217.2(LRRC23):c.621+1G>APathogenic
Spermatogenic failure 92
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
SPEM3Shared pathway100%TEKTIP1Shared pathway100%CFAP144Shared pathway100%CIMIP2AShared pathway100%CFAP77Shared pathway100%SPMIP10Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
88%
Ovary
83%
Lung
68%
Bone Marrow
56%
Liver
26%
Gene Interaction Network
Click a node to explore
LRRC23SPEM3TEKTIP1CFAP144CIMIP2ACFAP77SPMIP10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q53EV4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.53–0.98]
RankingsWhere LRRC23 stands among ~20K protein-coding genes
  • #14,460of 20,598
    Most Researched19
  • #4,559of 5,498
    Most Pathogenic Variants2
  • #9,296of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedLRRC23
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
PMID: 38091523
Elife Β· 2023
1.00
2
Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.
PMID: 39054792
Asian J Androl Β· 2024
0.90
3
Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.
PMID: 40931011
Nat Commun Β· 2025
0.80
4
LRRC23 deficiency causes male infertility with idiopathic asthenozoospermia by disrupting the assembly of radial spokes.
PMID: 37804054
Clin Genet Β· 2023
0.70
5
Network study of nasal transcriptome profiles reveals master regulator genes of asthma.
PMID: 32828590
J Allergy Clin Immunol Β· 2021
0.60