Gene table of SLC6A8 : solute carrier family 6 member 8

Gene-disease associations table

Disease IDDisease nameSource of annotation with SLC6A8OMIM linkNumber of associated genesgenes
PS300352CEREBRAL CREATINE DEFICIENCY SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 3GAMT, GATM, SLC6A8

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Annotation of the gene SLC6A8

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of amino acids and derivativesR-HSA-712915.4
Creatine metabolismR-HSA-712889.66
MetabolismR-HSA-14307282.34
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
cofactor transporter activityGO:00511846.69
creatine transmembrane transporter activityGO:00053089.05
substrate-specific transporter activityGO:00228922.72
secondary active transmembrane transporter activityGO:00152914.29
sodium ion transmembrane transporter activityGO:00150814.83
symporter activityGO:00152934.78
inorganic cation transmembrane transporter activityGO:00228903.49
transporter activityGO:00052152.57
neurotransmitter transporter activityGO:00053266.52
cation transmembrane transporter activityGO:00083243.32
solute:sodium symporter activityGO:00153705.83
modified amino acid transmembrane transporter activityGO:00723496.97
ion transmembrane transporter activityGO:00150753.04
transmembrane transporter activityGO:00228572.82
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
creatine:sodium symporter activityGO:00053099.74
solute:cation symporter activityGO:00152945.15
neurotransmitter:sodium symporter activityGO:00053286.79
metal ion transmembrane transporter activityGO:00468733.71
active transmembrane transporter activityGO:00228043.85