SLC6A8 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SLC6A8: Required for the uptake of creatine in muscles and brain. Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS). XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Motility/polarity/chemotaxis; Transporter, SLC family; Transporter

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: integral to plasma membrane; plasma membrane; integral to membrane

Molecular Function: creatine transporter activity; neurotransmitter:sodium symporter activity; creatine:sodium symporter activity

Biological Process: muscle contraction; neurotransmitter transport; transport; sodium ion transport; creatine metabolic process; creatine transport

Disease: Cerebral Creatine Deficiency Syndrome 1