SLC6A8 - solute carrier family 6 member 8 Gene

Also Known as CRT; CT1; CRT1; CRTR; CTR5; CCDS1; CRT-1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 6535

About SLC6A8

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,687,926-153,696,593 (from NCBI)

This gene has 11 transcripts (splice variants), 187 orthologues, 19 paralogues and is associated with 3 phenotypes. Broad expression in small intestine (RPKM 30.0), heart (RPKM 29.5) and 21 other tissues.

Summary

The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SLC6A8 Products (3)

mRNA	Protein	Name
NM_001142805.2	NP_001136277.1	sodium- and chloride-dependent creatine transporter 1 isoform 2
NM_001142806.1	NP_001136278.1	sodium- and chloride-dependent creatine transporter 1 isoform 3
NM_005629.4	NP_005620.1	sodium- and chloride-dependent creatine transporter 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables creatine:sodium symporter activity	IDA IDA: Inferred from direct assay	7945388	GOA
enables creatine:sodium symporter activity	IMP IMP: Inferred from mutant phenotype	17465020	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in creatine transmembrane transport	IMP IMP: Inferred from mutant phenotype	25861866	GOA
acts upstream of nitrogen compound transport	IDA IDA: Inferred from direct assay	24842606	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in apical plasma membrane	IDA IDA: Inferred from direct assay	12433955	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22644605	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A8 Protein Structure

SNF

0
100
200
300
400
500
600
635 a.a.

Protein Preferred Names	Protein Names
sodium- and chloride-dependent creatine transporter 1	creatine transporter 1

SLC6A8 抗体

製品番号	製品名	アプリケーション	反応性
HY-P810929	SLC6A8 Antibody	WB, ICC/IF	Human, Mouse, Rat

関連疾患

Diseases	Alias
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Cerebral Creatine Deficiency Syndrome	Deficiency, Cerebral Creatine, Syndrome
Cerebral Creatine Deficiency Syndrome 3	Arginine:Glycine Amidinotransferase Deficiency Agat Deficiency Gatm Deficiency Creatine Deficiency Syndrome Due To Agat Deficiency L-Arginine:Glycine Amidinotransferase Deficiency CCDS3 L-Arginine:Glycine Aminidotransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 3
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
46,Xy Sex Reversal 1	SRXY1 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 46,Xy Sex Reversal, Sry-Related Swyer Syndrome 46xy Sex Reversal 1 46,Xy Gonadal Dysgenesis Complete Sry-Related 46,Xy Sex Reversal Sry-Related 46,Xy True Hermaphroditism Sry-Related Gonadal Dysgenesis Xy Female Type Xy Females 46,Xy True Hermaphroditism, Sry-Related Gonadal Dysgenesis, 46,Xy 46, Xy Female
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Cornelia De Lange Syndrome 2	CDLS2 Cornelia De Lange Syndrome, X-Linked Cdls, X-Linked Cornelia De Lange Syndrome X-Linked Cornelia De Lange Syndrome, Type 2 Congenital Muscular Hypertrophy-Cerebral Syndrome
Non-Syndromic X-Linked Intellectual Disability 41	Mrx41 Mrx48 X-Linked Mental Retardation 48
Mixed Receptive-Expressive Language Disorder
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency
Brown-Vialetto-Van Laere Syndrome
Asphyxia Neonatorum	Birth Asphyxia Postnatal Asphyxia Asphyxia - Birth Asphyxia, In Liveborn Infant Hypoxia Neonatorum Hypoxia, In Liveborn Infant Intrapartum Asphyxia Neonatal Asphyxia Newborn Asphyxia Asphyxia In Liveborn Infant Asphyxia Of Newborn Nos Perinatal Asphyxia Perinatal Hypoxia Newborn Asphyxiation
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Complex Deficiency Pyruvate Decarboxylase Deficiency Pdh Deficiency PDHAD Pyruvate Dehydrogenase Complex Deficiency Disease Ataxia With Lactic Acidosis I Ataxia With Lactic Acidosis 1 Pdh Pdhc Ataxia With Lactic Acidosis Ataxia, Intermittent, With Abnormal Pyruvate Metabolism Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency Deficiency Of Pyruvic Dehydrogenase Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency Pdc Deficiency Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency Pdhc Deficiency Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency Ataxia Intermittent With Abnormal Pyruvate Metabolism Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency Pyruvate Dehydrogenase E1 Alpha Deficiency Pdc - [Pyruvate Dehydrogenase Complex] Deficiency Ataxia With Lactic Acidosis 2
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
L-2-Hydroxyglutaric Aciduria	L-2-Hydroxyglutaric Acidemia L2HGA L-2-Hga Aciduria, L-2-Hydroxyglutaric Combined D-2- And L-2-Hydroxyglutaric Aciduria
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Phase
HY-W015828	Ompenaclid	Inducer	99.94%	Phase 3

Pre-clinical Phase

Bioactive Molecules (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-169294	SLC6A8 corrector 1	Inhibitor	99.94%	Unkown
HY-RS13319	SLC6A8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-158161	JN-170	Inhibitor	/	Unkown
HY-169295	RAP 1		/	Unkown
HY-181753	INSP-0154		/	Unkown
HY-W695425	Creatine transporter-IN-1	Inhibitor	/	Unkown
HY-RS17671	Slc6a8 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24132	Slc6a8 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	SLC6A8	VGNC	VGNC:54602
Macaca mulatta	SLC6A8	VGNC	VGNC:77624
Rattus norvegicus	SLC6A8	RGD	RGD:619711
Mus musculus	SLC6A8	MGD	MGI:2147834
Others	SLC6A8	NCBI