Target intelligence / Profile preview

Probable C-mannosyltransferase DPY19L2 (DPY19L2)

Target
DPY19L2
Molecular classification
Enzyme, Glycosyltransferase, Transmembrane protein, Inner nuclear membrane protein
01

Overview

DPY19L2 (Probable C-mannosyltransferase DPY19L2) is a transmembrane glycosyltransferase enzyme highly expressed in the testis, where it is essential for the development of the acrosome and elongation of the sperm head during spermatogenesis[1][4][6]. The protein localizes to the inner nuclear membrane of round spermatids and anchors the developing acrosome to the nuclear envelope, a critical step in normal sperm morphogenesis[3][4]. Mutations or deletions in the DPY19L2 gene result in globozoospermia, characterized by round-headed sperm cells lacking an acrosome, which causes male infertility[1][2][4][6]. DPY19L2 has mannosyltransferase activity and attaches mannose to tryptophan residues of substrate proteins, a process called C-mannosylation[3][6]. There are no known therapeutic drugs targeting DPY19L2 as of now, and its principal biomedical relevance lies in its role in genetic infertility diagnosis.

Other names
Dpy-19-like protein 2Spermatogenesis associated 34SPATA34SPGF9dpy-19 like 2Protein dpy-19 homolog 2D19L2_HUMANUNQ3127/PRO10284FLJ32949
02

Biological functions

Acrosome formation in spermatogenesisSperm head elongationAttachment of acrosome to nuclear envelopeC-mannosylation of tryptophan residues on target proteins
03

Disease associations

Male infertility (infertility due to globozoospermia)Spermatogenic failure type 9 (SPGF9)
04

Biomarkers

DPY19L2 gene deletion/mutation as a biomarker for globozoospermia in male infertility

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