SLC6A8 - solute carrier family 6 member 8 Gene

Homo sapiens

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

Gene ID: 6535 | Gene type: protein coding

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

SLC6A8 Protein Structure

SNF

0
100
200
300
400
500
635 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent creatine transporter 1

creatine transporter 1

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-W015828	Ompenaclid	Inducer	≥98.0%	Phase 2

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13319	SLC6A8 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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