Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8

Alternative Names

  • SLC6A8
  • Creatine Transporter
  • CT1
  • CRTR
  • CRT
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OMIM Number

300036

NCBI Gene ID

6535

Uniprot ID

P48029

Length

8,668 bases

No. of Exons

14

No. of isoforms

4

Protein Name

Sodium- and chloride-dependent creatine transporter 1

Molecular Mass

70523 Da

Amino Acid Count

635

Genomic Location

chrX:153,687,926-153,696,593

Gene Map Locus
Xq28

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005629.4:c.1661C>TLebanonchrX:153694783PathogenicPathogenicCerebral Creatine Deficiency Syndrome 1NG_012016.2:g.11487C>T; NM_005629.4:c.1661C>T; NP_005620.1:p.Pro554Leu39751555965693
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