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MIRAGE
spermatogenic failure 88

Summary
Synonym
  • SPGF88
Definition
A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33.
Super Class
autosomal recessive disease spermatogenic failure
Disease Ontology
DOID:0070587
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
147872 KASH5 KASH domain containing 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8N6L0 Protein KASH5
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025