OMIM® :
57
Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
(618745) (Updated 05-Mar-2021)
MalaCards based summary :
Spermatogenic Failure 42, is also known as
spgf42. An important gene associated with Spermatogenic Failure 42 is
TTC29 (Tetratricopeptide Repeat Domain 29). Related phenotypes are
male infertility and
reduced sperm motility
Disease Ontology :
12
A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has material basis in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22.
UniProtKB/Swiss-Prot :
73
Spermatogenic failure 42: An autosomal recessive infertility disorder characterized by almost immotile spermatozoa due to multiple morphologic abnormalities of the flagella, including short, absent, coiled, and bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece.