AutismKB

Evidence Detail for SLC6A8


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Basic Information Top
Gene Symbol:SLC6A8 ( CRT,CRTR,CT1,MGC87396 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Band: Xq28
Quick LinksEntrez ID:6535; OMIM: 300036; Uniprot ID:SC6A8_HUMAN; ENSEMBL ID: ENSG00000130821
Sequences Top
>SLC6A8|6535|nucleotide
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>SLC6A8|6535|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3) 14 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMCreatine deficiency syndrome, X-linked (300352)
DescriptionCreatine deficiency syndrome; non-syndromic ID. Brain creatine deficiency can be caused by mutation in the creatine transporter gene SLC6A8, or by defects in the biosynthesis of creatine (GAMT and GATM genes); mutations in all three genes have been reported in ASD; ASD/autistic features appear to be frequent in creatine deficiency syndromes
Reference(s)12210795; 17101918; 16601898; 19165619; 19319661;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Poo-Arguelles, 2006_1 human ---- case report
  • Subjects: 2
  • Normal Controls: -
  • Methods: DNA sequence analysis
  • Evidence Details: Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878-879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222-1224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively).
Newmeyer, 2007_1 human -ASD genetics: mutation screen
  • Subjects: 100 male( ages 3-18)
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: DNA sequence analysis was performed on all subjects for creatine transporter gene (SLC6A8) defects. One subject had a novel unclassified variant in the SLC6A8 gene exon 13: c.1890G>C.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 200 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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