SLC6A8

solute carrier family 6 member 8

The SLC6A8 gene provides instructions for making a protein called sodium- and chloride-dependent creatine transporter 1. This protein transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly.

At least 80 mutations in the SLC6A8 gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, seizures, and muscle weakness. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 153,688,297 to 153,696,593 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • creatine transporter 1
  • creatine transporter SLC6A8
  • CRT
  • CRTR
  • CT1
  • MGC87396
  • SC6A8_HUMAN
  • sodium- and chloride-dependent creatine transporter 1
  • solute carrier family 6 (neurotransmitter transporter), member 8
  • solute carrier family 6 (neurotransmitter transporter, creatine), member 8