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The protein encoded by DPY19L2 belongs to the dpy-19 family. Additionally we are shipping Dpy-19-Like 2 (C. Elegans) Antibodies (40) and many more products for this protein.
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Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC (show AURKC Proteins) and DPY19L2.
Among Tunisian patients with globozoospermia, 8 DPY19L2 haplotypes were found. 61.1% were homozygous for a DPY19L2 deletion. A new splice-site mutation at the junction exon-intron 16 [c.1579_1580+4delAGGTAAinsTCAT] was found in 1 patient.
The DPY19L2 mutations are the major cause of globozoospermia.
Analysis of public databases at the DPY19L2 locus paradoxically revealed that, in the general population, duplications were approximately three times as frequent as deletions.
DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene.
identification of DPY19L2 deletions and point mutations in European patients shows that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background
Patients with globozoospermia have a homozygous deletion of DPY19L2.
The relocation of the gene DPY19L2 within a set of low copy repeats.
In Dpy19l2 knock-out round spermatids, the detachment of the acrosome leads to Sun5 and lamin B1 relocalization, confirming that Sun5 protein is excluded from the nuclear envelope facing the acrosome.
Absence of Dpy19l2 leads to the destabilization of both the nuclear dense lamina and the junction between the acroplaxome and the nuclear envelope in spermatids. Consequently, the acrosome and the manchette fail to be linked to the nucleus.
The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9).
dpy-19-like 2 (C. elegans)
, protein dpy-19 homolog 2-like
, probable C-mannosyltransferase DPY19L2
, protein dpy-19 homolog 2
, spermatogenesis associated 34
, dpy-19-like protein 2
, dpy-19-like 2