SLC6A17 - solute carrier family 6 member 17 Gene

Homo sapiens

Also known as NTT4; MRT48

Gene ID: 388662 | Gene type: protein coding

About SLC6A17

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,150,494-110,202,202 (from NCBI)

This gene has 2 transcripts (splice variants), 269 orthologues, 19 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]

SLC6A17 Products(1)

mRNA	Protein	Name
NM_001010898.4	NP_001010898.1	sodium-dependent neutral amino acid transporter SLC6A17

SLC6A17 Protein Structure

SNF

0
200
400
600
727 a.a.

Protein Preferred Names

Protein Names

sodium-dependent neutral amino acid transporter SLC6A17

neurotransmitter transporter 4

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 48

Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	MRT48
Autosomal Recessive Intellectual Developmental Disorder 48

Trichothiodystrophy 2, Photosensitive

TTD2	Photosensitive Trichothiodystrophy 2

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3	DEE3
Eiee3	Early Myoclonic Encephalopathy
Developmental And Epileptic Encephalopathy, 3	Early Infantile Epileptic Encephalopathy 3
Eme	Neonatal Epilepsy With Suppression-Burst Pattern
Encephalopathy, Epileptic, Early Infantile, Type 3

Trichothiodystrophy 3, Photosensitive

TTD3	Trichothiodystrophy, Complementation Group A
Ttda	Photosensitive Trichothiodystrophy 3
Trichothiodystrophy Complementation Group A

Retinitis Pigmentosa 68

RP68	Retinitis Pigmentosa, Type 68

Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect	Dicarboxylicaminoaciduria
DCBXA	Renal Aminoacidurias

Hartnup Disorder

Hartnup Disease	HND
Neutral 1 Amino Acid Transport Defect	Neutral Amino Acid Transport Defect
Deficiency Of Tryptophan Oxygenase	Hartnup'S Disease
Aminoaciduria, Hartnup Type	Disorder Of Neutral Amino Acid Transport

Iminoglycinuria

Iminoglycinuria, Digenic

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13303	SLC6A17 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC6A17	VGNC	VGNC:46459
Macaca mulatta	SLC6A17	VGNC	VGNC:77805
Mus musculus	SLC6A17	MGD	MGI:2442535
Rattus norvegicus	SLC6A17	RGD	RGD:1587185
Bos taurus	SLC6A17	VGNC	VGNC:50163
Felis catus	SLC6A17	VGNC	VGNC:65412

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