SLC6A8 (solute carrier family 6 member 8)

2014-11-01  

Identity

HGNC
SLC6A8
LOCATION
Xq28
LOCUSID
6535
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
378506812024Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.0
384526092024ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.0
385310172024Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).0
378506812024Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.0
384526092024ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.0
385310172024Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).0
377086652023X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.1
377086652023X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.1
355887942022Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.1
355887942022Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.1
329903572021Oxidative phosphorylation in creatine transporter deficiency.2
331648242021Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.1
339902172021SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress.11
329903572021Oxidative phosphorylation in creatine transporter deficiency.2
331648242021Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.1

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