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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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Motility/polarity/chemotaxis; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: integral component of membrane; integral component of plasma membrane; plasma membrane
Molecular Function: creatine transmembrane transporter activity; creatine:sodium symporter activity; neurotransmitter:sodium symporter activity
Biological Process: creatine metabolic process; creatine transport; muscle contraction; neurotransmitter transport; sodium ion transport; transport
Disease: Cerebral Creatine Deficiency Syndrome 1
Reference #:  P48029 (UniProtKB)
Alt. Names/Synonyms: Creatine transporter 1; creatine transporter SLC6A8; CRT; CRTR; CT1; MGC87396; SC6A8; SLC6A8; Sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter, creatine), member 8; Solute carrier family 6 member 8
Gene Symbols: SLC6A8
Molecular weight: 70,523 Da
Basal Isoelectric point: 6.02  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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