SLC6A8 : solute carrier family 6 member 8
Description
The SLC6A8 (solute carrier family 6 member 8) is a protein-coding gene located on chromosome X.
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.
The SLC6A8 protein is a creatine:sodium symporter that facilitates the uptake of creatine. It plays a crucial role in supplying creatine to the brain across the blood-brain barrier. This function is supported by several studies (PubMed:7953292, PubMed:7945388, PubMed:9882430, PubMed:17465020, PubMed:22644605, PubMed:25861866).
SLC6A8 is also known as CCDS1, CRT, CRT-1, CRT1, CRTR, CT1, CTR5.
Associated Diseases
- Cerebral creatine deficiency syndrome 1
- X-linked creatine transporter deficiency
- X-linked creatine deficiency
