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SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8

Also known as: CRT; CT1; CRTR; CTR5; CCDS1

Summary

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. [provided by RefSeq, Dec 2008]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (153688297..153696593)
Total number of exons:
14

Links

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