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MGP002871

UniProt Annotations

Entry Information
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 8
Protein EntrySC6A8_HUMAN
UniProt IDP48029
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=CRT1; IsoId=P48029-1; Sequence=Displayed; Name=2; Synonyms=CRT2, SLC6A8B; IsoId=P48029-2; Sequence=VSP_043917, VSP_043918, VSP_043919, VSP_043920; Name=3; Synonyms=SLC6A8C; IsoId=P48029-3; Sequence=VSP_043916; Name=4; IsoId=P48029-4; Sequence=VSP_046316; Note=No experimental confirmation available.;
DiseaseCerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. {ECO:0000269|PubMed:11898126, ECO:0000269|PubMed:12210795, ECO:0000269|PubMed:15154114, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24123876}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRequired for the uptake of creatine in muscles and brain.
SimilarityBelongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityPredominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. {ECO:0000269|PubMed:7945388, ECO:0000269|PubMed:7953292}.
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