Sodium- and chloride-dependent creatine transporter 1

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

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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

Clinical significance

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

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130821Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000019558Ensembl, 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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This article incorporates text from the United States National Library of Medicine, which is in the public domain.