SLC6A6 - solute carrier family 6 member 6 Gene

Homo sapiens

Also known as TAUT; HTRDC

Gene ID: 6533 | Gene type: protein coding

About SLC6A6

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:14,402,576-14,489,349 (from NCBI)

This gene has 12 transcripts (splice variants), 298 orthologues, 19 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 26.5), spleen (RPKM 20.3) and 23 other tissues.

Summary

This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

SLC6A6 Products(3)

mRNA	Protein	Name
NM_001134367.3	NP_001127839.2	sodium- and chloride-dependent taurine transporter isoform c
NM_001134368.4	NP_001127840.1	sodium- and chloride-dependent taurine transporter isoform b
NM_003043.6	NP_003034.2	sodium- and chloride-dependent taurine transporter isoform a

SLC6A6 Protein Structure

SNF

0
100
200
300
400
500
620 a.a.

Protein Preferred Names

Protein Names

sodium- and chloride-dependent taurine transporter

solute carrier family 6 (neurotransmitter transporter, taurine), member 6

Related Diseases

Diseases

Alias

Hypotaurinemic Retinal Degeneration And Cardiomyopathy

HTRDC

Retinal Degeneration

Degeneration Of Retina

Megacolon

Dilatation Of Colon

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

Placental Choriocarcinoma

Choriocarcinoma Of The Placenta

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

Gestational Choriocarcinoma

Gestational Chorionepithelioma

Molar Pregnancy With Choriocarcinoma

Iminoglycinuria

Iminoglycinuria, Digenic

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS13317	SLC6A6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC6A6	RGD	RGD:61912
Macaca mulatta	SLC6A6	VGNC	VGNC:77622
Mus musculus	SLC6A6	MGD	MGI:98488
Felis catus	SLC6A6	VGNC	VGNC:65418
Bos taurus	SLC6A6	VGNC	VGNC:34922
Canis familiaris	SLC6A6	VGNC	VGNC:46467

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