DPY19L1
Description
The DPY19L1 (dpy-19 like C-mannosyltransferase 1) is a protein-coding gene located on chromosome 7.
DPY19L1 is an enzyme known as a C-mannosyltransferase. It modifies target proteins by attaching a mannose sugar molecule to tryptophan residues. This process, called C-mannosylation, takes place within the endoplasmic reticulum, specifically on its luminal side. DPY19L1 requires a specific sequence pattern (WxxW) on the target protein for this modification. Notably, it modifies the first two tryptophan residues in the sequence WxxWxxWxxC found in a protein called UNC5A, which is involved in cell signaling and development. This modification is thought to play a role in regulating neurite extension, the growth of nerve fibers during development.
DPY19L1 is also known as -.
Associated Diseases
- partial chromosome Y deletion
- ring chromosome Y
- congenital bilateral absence of vas deferens
- spermatogenic failures 50
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 25
- spermatogenic failure 63
- azoospermia, obstructive, with nephrolithiasis
- isochromosomy Yp
- isochromosomy Yq
- spermatogenic failure, X-linked, 2
- female infertility due to oocyte meiotic arrest
- spermatogenic failure 61
