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GENATLAS PHENOTYPE

last update : 30-08-2022

Symbol	SPGF74
Location	6q15
Name	spermatogenic failure 74 with globozoospermia
Corresponding gene	SPACA1
Main clinical features	infertility as a consequence of globozoospermia
Genetic determination	autosomal recessive
Function/system disorder	sex-genitalia
Type	disease

Remark(s)

. SPACA1 loss of function causes autosomal recessive globozoospermia by damaging the acrosome-acroplaxome complex (PMID: 34172998))