spermatogenic failure 31

Summary
Synonym
  • SPGF31
Definition
A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2.
Super Class
autosomal recessive disease male infertility due to acephalic spermatozoa
Disease Ontology
DOID:0111922
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
83449 PMFBP1 polyamine modulated factor 1 binding protein 1

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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: December 9, 2024