Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:Q8IYM1 (
SEPT12
)
19
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Male infertility is a complex multifactorial disease affecting approximately 10% of couples who want to have children. Some cases of infertility can be explained by genetic factors. Septins are members of the GTPase superfamily, which are involved in diverse biological processes including morphogenesis, compartmentalization, cytokinesis, and apoptosis. The
septin 12
gene,
SEPT12
, is expressed exclusively in post-meiotic male germ cells and is considered as a critical gene for spermatogenesis. In this study, we evaluated 200 patients with non-obstructive
azoospermia
and detected mutations of 25 spermatogenesis-associated genes by targeted exome sequencing. We report a missense
SEPT12
variant, c.673C>A/p.Gln225Lys, in an infertile man with non-obstructive
azoospermia
. The variation was located inside the GTPase domain and had a SIFT score of 0.02 (<0.50) and was considered to be 'probably damaging' by PolyPhen. This case may provide clues to help establish the relationship between
SEPT12
gene alterations and some cases of idiopathic male infertility. The role of this variant should thus be investigated further.
...
PMID:Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China. 3048 58
