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⇱ Sodium- and chloride-dependent creatine transporter 1 - Wikipedia

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Protein-coding gene in the species Homo sapiens
SLC6A8
Identifiers
AliasesSLC6A8, CCDS1, CRT, CRTR, CT1, CTR5, solute carrier family 6 member 8
External IDsOMIM: 300036; MGI: 2147834; HomoloGene: 4113; GeneCards: SLC6A8; OMA:SLC6A8 - orthologs
Gene location (Human)
👁 X chromosome (human)
Chr.X chromosome (human)[1]
BandXq28Start153,687,926 bp[1]
End153,696,588 bp[1]
Gene location (Mouse)
👁 X chromosome (mouse)
Chr.X chromosome (mouse)[2]
BandX A7.3|X 37.38 cMStart72,716,756 bp[2]
End72,726,108 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • inferior olivary nucleus

  • apex of heart

  • mucosa of ileum

  • optic nerve

  • dorsal motor nucleus of vagus nerve

  • muscle of thigh

  • gastrocnemius muscle

  • left ventricle

  • right auricle of heart

  • postcentral gyrus
Top expressed in
  • seminal vesicula

  • gastrula

  • decidua

  • left colon

  • duodenum

  • ileum

  • myocardium of ventricle

  • lip

  • jejunum

  • digastric muscle
More reference expression data
BioGPS
👁 Image


👁 Image


👁 Image
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6535

102857

Ensembl

ENSG00000130821

ENSMUSG00000019558

UniProt

P48029

Q8VBW1

RefSeq (mRNA)

NM_005629
NM_001142805
NM_001142806

NM_001142809
NM_001142810
NM_133987

RefSeq (protein)

NP_001136277
NP_001136278
NP_005620

NP_001136281
NP_001136282
NP_598748

Location (UCSC)Chr X: 153.69 – 153.7 MbChr X: 72.72 – 72.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.[5][6]

Clinical significance

[edit]

Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.

See also

[edit]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130821 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019558 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST (Jul 1995). "Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD". Genomics. 25 (1): 332–3. doi:10.1016/0888-7543(95)80155-F. PMID 7774949.
  6. ^ "SLC6A8 solute carrier family 6 member 8 [ Homo sapiens (human) ]".

Further reading

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External links

[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

By group
SLC1–10
(1):
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SLC11–20
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SLC21–30
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SLC31–40
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SLC41–48
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(48):
SLCO1–4
Symporter, Cotransporter
Antiporter (exchanger)


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