VDAC3
Description
The VDAC3 (voltage dependent anion channel 3) is a protein-coding gene located on chromosome 8.
VDAC3 is a protein encoded by the VDAC3 gene on chromosome 8 in humans. It is a voltage-dependent anion channel and shares structural similarity with other VDAC isoforms. Although it has limited pore-forming ability, VDAC3 interacts with other proteins to carry out its functions, including sperm flagella and centriole assembly. Mutations in VDAC3 have been linked to male infertility and Parkinson's disease. The three VDAC isoforms in humans are highly conserved, particularly in their 3D structure. VDACs form a wide β-barrel structure, with the N-terminal residing inside to partially close the pore. The VDAC3 isoform sequence contains many cysteines, which form disulfide bridges and impact the flexibility of the β-barrel. VDACs also contain a mitochondrial targeting sequence for translocation to the outer mitochondrial membrane. VDAC3 exists in multiple isoforms, including a full-length form and a shorter form called VDAC3b. The shorter form is primarily expressed at cell centrosomes.
VDAC3 is also known as HD-VDAC3, VDAC-3.
Associated Diseases
- low grade glioma
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure 72
- spermatogenic failure 65
- spermatogenic failure 27
- spermatogenic failure 18
- spermatogenic failure 46
- spermatogenic failure 43
- spermatogenic failure 19
- spermatogenic failure 45
- spermatogenic failure 49
- spermatogenic failure 42
- spermatogenic failure, X-linked, 3
- partial chromosome Y deletion
- spermatogenic failure 40
- spermatogenic failure 39
- spermatogenic failure 47
- spermatogenic failure 63
