Biology:DPY19L2
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Short description: Protein-coding gene in humans
 Generic protein structure example |
Dpy-19-like 2 (C. elegans) is a protein that in humans is encoded by the DPY19L2 gene.[1]
Function
The C. elegans gene dpy-19 belongs to the dpy ("dumpy" phenotype)[2] gene class and encodes DPY-19, transmembrane protein with C-linked mannosyltransferase activity.[3][4] In humans, 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).
References
- ↑ "Entrez Gene: Dpy-19-like 2 (C. elegans)". https://www.ncbi.nlm.nih.gov/gene/283417.
- ↑ "dumpy (phenotype)". wormbase.org. https://wormbase.org/species/all/phenotype/WBPhenotype:0000583#0--9.
- ↑ "dpy-19 (gene)". wormbase.org. https://wormbase.org/species/c_elegans/gene/WBGene00001078#0-9fc41dge-9.
- ↑ "dpy-19". NCBI. https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=worm&ctx=ctx-03819-mweb11-127281&q=dpy-19&N=0.
Further reading
- "A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation". American Journal of Human Genetics 88 (3): 351–61. March 2011. doi:10.1016/j.ajhg.2011.02.007. PMID 21397064.
- "MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia". Human Reproduction 27 (8): 2549–58. August 2012. doi:10.1093/humrep/des160. PMID 22627659.
- "Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots". Human Molecular Genetics 21 (16): 3695–702. August 2012. doi:10.1093/hmg/dds200. PMID 22653751.
- "Duplication and relocation of the functional DPY19L2 gene within low copy repeats". BMC Genomics 7: 45. March 2006. doi:10.1186/1471-2164-7-45. PMID 16526957.
- "Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population". PLOS Genetics 9 (3): e1003363. March 2013. doi:10.1371/journal.pgen.1003363. PMID 23555282.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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