Property Summary

NCBI Gene PubMed Count 55
PubMed Score 115.06
PubTator Score 116.01

Knowledge Summary

Patent

No data available

Expression

Gene RIF (39)

PMID Text
25861866 The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells.
25531585 Both SPAK and OSR1 are negative regulators of the creatine transporter SLC6A8
25531216 Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane
25044748 In the titel.
24962355 It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain.
24789340 Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment
24597975 both BCAP31 and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 deficiency
24561156 CTR4 and CTR5 are possible regulators of the creatine transporter since their overexpression results in upregulated CTR1 protein and creatine uptake.
24144841 a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types was identified.
24140398 Combination of deep sequencing technology with long-range PCR revealed a novel intragenic duplication in the SLC6A8 gene, providing a definitive molecular diagnosis of creatine transporter deficiency in a male patient.
24137762 Creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar mental retardation and diagnostic screening of them should always include screening for SLC6A8 deficiency.
23644449 a de novo mutation in the SLC6A8 gene in 101 males with X-linked creatine transporter deficiency
23578822 study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels.
22644605 SLC6A8 mutants displayed no electrogenic activity with all Cr analogs tested in X. laevis oocytes.
22281021 Missense mutations in SLC6A8 gene is associated with X-linked disorder.
21556832 analysis of X-linked creatine transporter defect in nine boys shows that it has an effect on IQ
21267006 Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability.
21190923 SLC6A8 genes may not be directly involved in human male infertility
21140503 impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures
20846889 Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disabilit
20602486 Hemizygosity for a novel deletion producing a frameshift (c.974_975delCA, p.Thr325SerfsX139) in the creatine transporter gene is associated with X-linked cerebral creatine deficiency.
20528887 symptoms of the creatine transporter defect (mental retardation, learning difficulties, and constipation) can be present in female SLC6A8 heterozygotes
19879361 Guanidinoacetate is transported from AGAT- to GAMT-expressing cells through SLC6A8 to allow creatine synthesis, thereby explaining creatine deficiency in SLC6A8-deficient CNS.
19570237 The estimated amount of total creatine in the placenta and brain significantly increased in the second half of pregnancy, coinciding with a significant increase in expression of CrT mRNA.
19319661 report the first two Spanish adult patients with creatine transporter deficiency and compare their clinical phenotype and the evolution of the disease with those of other published cases
19188083 The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk.
18515020 This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse.
18461508 Observational study of gene-disease association. (HuGE Navigator)
18443316 A novel deletion (c.1690-1703 del) in exon 12 of SLC6A8 resulted in a frameship mutation associated with global developmental delay and premature ventricular beats.
18350323 identified two brothers with mental retardation, caused by a c.1059_1061delCTT; p.Phe354del mutation in the SLC6A8 gene
17603797 Exhibition of a developmental apraxia of speech with motor planning and execution deficit in a creatine transporter (SLC6A8) mutation.
16738945 Observational study of gene-disease association. (HuGE Navigator)
16738945 Mutations in the creatine transporter gene SLC6A8 may be a relatively major contributor in males with mental retardation of unknown cause.
16086185 Creatine transporter deficiency associated with gene deficiency of this protein.
16049011 involvement of residues from transmembrane domain 3 is a common feature of the substrate pathway of the creatine transporter
16036218 SGK1 and SGK3 increase SLC6A8 activity by increasing the maximal transport rate of the carrier. Deranged SGK1 and/or SGK3 dependent regulation of SLC6A8 may affect energy storage particularly in skeletal muscle, heart, and neurons
15154114 High prevalence of SLC6A8 deficiency in X-linked mental retardation
12210795 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
11898126 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

AA Sequence

MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAV      1 - 70
GLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVI     71 - 140
VFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPV    141 - 210
IEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGV    211 - 280
LLPGALDGIIYYLKPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSG    281 - 350
TSFFAGFVVFSILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV    351 - 420
GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE    421 - 490
CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNTYVYPWWGEAM    491 - 560
GWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQDADVRGLTTLTPVSESSKVVV    561 - 630
VESVM                                                                     631 - 635
//

Text Mined References (62)

PMID Year Title
25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
25531585 2014 Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
25531216 2014 Upregulation of the creatine transporter Slc6A8 by Klotho.
25044748 2014 Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
24962355 2014 RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
24789340 2014 X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24597975 2015 Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
24561156 2014 Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.
24144841 2014 Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.
24140398 2013 Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
24137762 2010 The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
23644449 2013 Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
23578822 2013 The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
22644605 2013 Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
22281021 2012 Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
21556832 2012 Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
21267006 2011 Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
21190923 2011 Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility.
21140503 2011 Defining the pathogenicity of creatine deficiency syndrome.
20846889 2010 Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
20602486 2010 Creatine transporter deficiency in two half-brothers.
20528887 2011 Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19879361 2010 Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
19570237 2009 Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.
19319661 2009 Creatine transporter deficiency in two adult patients with static encephalopathy.
19188083 2009 Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18515020 2008 Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
18461508 2007 Screening of male patients with autism spectrum disorder for creatine transporter deficiency.
18443316 2008 Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
18350323 2008 Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
17603797 2007 Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
17465020 2007 Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
17101918 2006 High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
16738945 2006 X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
16086185 2005 X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
16049011 2005 Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway.
16036218 2005 Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15338463 2004 Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.
15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12219031 2002 Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis.
12210795 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
11898126 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
11326334 2001 X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
11063724 2000 Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes.
10893433 2000 Creatine and creatinine metabolism.
8661155 1996 The genomic organization of a human creatine transporter (CRTR) gene located in Xq28.
8661037 1996 Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28.
7953292 1994 Cloning, pharmacological characterization, and genomic localization of the human creatine transporter.
7945388 1994 The cloning and expression of a human creatine transporter.
7774949 1995 Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.
7622069 1995 Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family.