P48029
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
creatine transporter
NCBI Official Synonym Full Names
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
NCBI Protein Information
sodium- and chloride-dependent creatine transporter 1; OTTHUMP00000025945; OTTHUMP00000025946; creatine transporter SLC6A8; solute carrier family 6 member 8
UniProt Protein Name
Sodium- and chloride-dependent creatine transporter 1
UniProt Synonym Protein Names
Solute carrier family 6 member 8
UniProt Entry Name
SC6A8_HUMAN
NCBI Summary for SLC6A8
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]
UniProt Comments for SLC6A8
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: Transporter, SLC family; Membrane protein, multi-pass; Motility/polarity/chemotaxis; Membrane protein, integral; Transporter
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: integral to plasma membrane; integral to membrane; plasma membrane
Molecular Function: creatine transporter activity; neurotransmitter:sodium symporter activity; creatine:sodium symporter activity
Biological Process: muscle contraction; transport; neurotransmitter transport; sodium ion transport; creatine metabolic process; creatine transport
Disease: Cerebral Creatine Deficiency Syndrome 1
Research Articles on SLC6A8
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Pathways associated with anti-SLC6A8 antibody
Diseases associated with anti-SLC6A8 antibody
Organs/Tissues associated with anti-SLC6A8 antibody
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