spermatogenic failure type 6

spermatogenic failure type 6

An autosomal recessive infertility disorder (OMIM:102530) characterised by spermatogenesis defects (especially of the acrosome, which can be completely absent in severe cases), variably accompanied by abnormal nuclear shape and abnormal arrangement of mitochondria of spermatozoa.

Molecular pathology
Caused by defects of:
(1) GOPC, which encodes a Golgi protein that plays a role in intracellular trafficking; and
(2) SPATA16, which encodes a testis-specific protein thought to play a role in spermatogenesis.

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