SLC6A8 (solute carrier family 6 member 8)

2014-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
CCDS1,CRT,CRTR,CT1,CTR5

Other Information

Locus ID:

NCBI: 6535
MIM: 300036
HGNC: 11055
Ensembl: ENSG00000130821

Variants:

dbSNP: 6535
ClinVar: 6535
TCGA: ENSG00000130821
COSMIC: SLC6A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130821ENST00000253122P48029
ENSG00000130821ENST00000253122X5D9C4
ENSG00000130821ENST00000413787H7C1I2
ENSG00000130821ENST00000429147H7C249
ENSG00000130821ENST00000430077P48029
ENSG00000130821ENST00000442457H7C222
ENSG00000130821ENST00000457723H7C0F5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Creatine metabolismREACTOMER-HSA-71288
Metabolism of polyaminesREACTOMER-HSA-351202

References

Pubmed IDYearTitleCitations
151541142004High prevalence of SLC6A8 deficiency in X-linked mental retardation.36
167389452006X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.20
167389452006X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.20
236444492013Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.20
265422862015Creatine biosynthesis and transport in health and disease.20
118981262002X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.19
195702372009Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.18
235788222013The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.14
122107952002X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.12
160362182005Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3.11

Citation

Dessen P

SLC6A8 (solute carrier family 6 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73479/slc6a8