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GeneE
6 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.
AXDND1
axonemal dynein light chain domain containing 1
Chromosome 1 Β· 1q25.2
NCBI Gene: 126859Ensembl: ENSG00000162779.22HGNC: HGNC:26564UniProt: Q5T1B0
15PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmcytosolspermatogenesismanchette assemblynephrotic syndrome, type 2steroid-resistant nephrotic syndromegenetic disorderfamilial idiopathic steroid-resistant nephrotic syndrome
✦AI Summary

AXDND1 is a testis-enriched gene essential for male fertility that functions primarily in regulating spermatogonial commitment and spermiogenesis 12. The protein localizes to the manchette, a dynamic cytoplasmic structure critical for spermatid development, where it regulates manchette dynamics, spermatid head shaping, and sperm flagellum assembly 2. AXDND1 functions as an atypical dynein complex-related protein involved in protein and vesicle transport 1. Loss of AXDND1 causes male infertility through multiple mechanisms: it disrupts the balance between self-renewing and differentiation-committed spermatogonial populations, leading to progressive germ cell depletion and testicular failure 12. Additionally, AXDND1-deficient sperm exhibit severe morphological abnormalities including abnormal axoneme structure with ectopic vesicles, deficient outer dense fibers, and microtubule doublet disorganization, resulting in sperm immotility 12. Pathogenic AXDND1 variants have been identified in infertile men with non-obstructive azoospermia and multiple morphological abnormalities of sperm flagella (MMAF), with frameshift mutations causing complete loss of AXDND1 expression and absent central pair microtubules in flagella 23. These findings establish AXDND1 as critical for maintaining both the spermatogonial stem cell pool and producing motile sperm.

Sources cited
1
AXDND1 required for spermatogonial commitment balance and sperm tail formation; knockout causes sterility, aberrant axoneme structure, and germ cell loss
PMID: 38997255
2
AXDND1 is testis-enriched, essential for spermiogenesis; localizes to manchette; AXDND1 mutations identified in NOA patients; loss causes head deformation and axoneme defects
PMID: 34759295
3
AXDND1 regulates spermatogonial commitment and sperm tail development; pathogenic variants identified in infertile men
PMID: 38014244
4
Homozygous AXDND1 frameshift mutation causes MMAF with disorganized axonemal structure and missing central pair microtubules; AXDND1 expression absent in patient sperm
PMID: 40457935
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
nephrotic syndrome, type 2Open Targets
0.57Moderate
steroid-resistant nephrotic syndromeOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.46Moderate
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.45Moderate
idiopathic nephrotic syndromeOpen Targets
0.45Moderate
nephrotic syndromeOpen Targets
0.39Weak
focal segmental glomerulosclerosisOpen Targets
0.37Weak
Nephrotic range proteinuriaOpen Targets
0.33Weak
scleritisOpen Targets
0.32Weak
azoospermiaOpen Targets
0.29Weak
atrophic gastritisOpen Targets
0.27Weak
chronic kidney diseaseOpen Targets
0.27Weak
benign endocrine neoplasmOpen Targets
0.26Weak
neurodegenerative diseaseOpen Targets
0.23Weak
hypertensionOpen Targets
0.23Weak
COVID-19Open Targets
0.22Weak
severe acute respiratory syndromeOpen Targets
0.20Weak
brain aneurysmOpen Targets
0.17Weak
male infertilityOpen Targets
0.17Weak
ProteinuriaOpen Targets
0.11Weak
Pathogenic Variants1
NM_144696.6(AXDND1):c.937C>T (p.Arg313Ter)Likely pathogenic
Non-obstructive azoospermia
β˜…β˜†β˜†β˜†2024β†’ Residue 313
View on ClinVar β†—
Related Genes
CXorf58Protein interaction75%SPMIP7Shared pathway50%CBY3Shared pathway50%ARRDC5Shared pathway50%C3orf62Shared pathway50%TXNDC8Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
34%
Ovary
29%
Lung
23%
Brain
17%
Heart
0%
Gene Interaction Network
Click a node to explore
AXDND1CXorf58SPMIP7CBY3ARRDC5C3orf62TXNDC8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5T1B0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.67–0.98]
RankingsWhere AXDND1 stands among ~20K protein-coding genes
  • #15,492of 20,598
    Most Researched15
  • #5,428of 5,498
    Most Pathogenic Variants1
  • #9,369of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedAXDND1
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
PMID: 38997255
Cell Death Dis Β· 2024
1.00
2
AXDND1, a novel testis-enriched gene, is required for spermiogenesis and male fertility.
PMID: 34759295
Cell Death Discov Β· 2021
0.83
3
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
PMID: 38014244
bioRxiv Β· 2023
0.67
4
Next-Generation Integrated Sequencing Identifies Poor Prognostic Factors in Patients with MYD88-Mutated Chronic Lymphocytic Leukemia in Taiwan.
PMID: 39357512
Pathobiology Β· 2025
0.50
5
Classification and deep-learning-based prediction of Alzheimer disease subtypes by using genomic data.
PMID: 37386009
Transl Psychiatry Β· 2023
0.33