SLC2A8
Description
The SLC2A8 (solute carrier family 2 member 8) is a protein-coding gene located on chromosome 9.
SLC2A8, also known as GLUT8, is the eighth member of the glucose transporter superfamily. It is characterized by the presence of two leucine residues in its N-terminal intracellular domain, which influences intracellular trafficking. SLC2A8 was cloned almost simultaneously by two different groups. SLC2A8 is not insulin-sensitive; insulin does not promote SLC2A8 translocation to the cell surface in neurons or transfected cell lines. The exact subcellular localization of SLC2A8 is not yet clear, but it is known that most SLC2A8 is not present at the cell surface. Some co-localization with both the endoplasmic reticulum and late endosomes/lysosomes has been published. When the N-terminal di-leucine motif is mutated into a di-alanine motif, SLC2A8 is located mostly at the cell surface in Xenopus oocytes and mammalian cells such as HEK 293 cells and differentiated PC12 cells. The in vivo function of SLC2A8 remains to be defined, but it is suggested that it may play a role in fertility, being expressed at high levels in testes and in the acrosomal part of spermatozoa.
SLC2A8 is also known as GLUT8, GLUTX1.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- familial sick sinus syndrome
- Brugada syndrome
- spermatogenic failure 7
- spermatogenic failure 3
- spermatogenic failure 29
- spermatogenic failure 65
- spermatogenic failure 45
- spermatogenic failure 19
- spermatogenic failure 49
- spermatogenic failure 43
- spermatogenic failure 11
- spermatogenic failure 10
- spermatogenic failure 18
- spermatogenic failure 27
- spermatogenic failure 46
- spermatogenic failure 47
