Basic Information

Symbol
SLC6A8
RNA class
mRNA
Alias
Solute Carrier Family 6 Member 8 CT1 Sodium- And Chloride-Dependent Creatine Transporter 1 CRT-1 CRTR CRT1 CRT Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member 8 Solute Carrier Family 6 (Neurotransmitter Transporter), Member 8 Creatine Transporter 1 Creatine Transporter CCDS1 CTR5
Location (GRCh38)
X:153687926-153696591
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005629.4
Sequence length
3931.0 nt
GC content
0.6296

Transcripts

ID Sequence Length GC content
NM_001142805.2 NCBI
GAAGAGAGGGAUAGUCGGAGCGAGGUGGCGAGUCGCUGAGCCCGCCGCG… 3901 nt 0.6301
NM_001142806.1 NCBI
GAAGUGACCCGGUGAUGGGUGGGAAACAGAGGUCCAGAGCAAAGGCCUU… 3129 nt 0.5746
NM_005629.4 NCBI
GAAGAGAGGGAUAGUCGGAGCGAGGUGGCGAGUCGCUGAGCCCGCCGCG… 3931 nt 0.6296
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]

Forensic Context

A study in humans demonstrated that in monozygotic twin pairs discordant for body mass index, the heavier co-twins exhibited a downregulation of the SLC6A8 gene, a creatine transporter, in subcutaneous adipose tissue, which was associated with lower tissue creatine levels [van der Kolk et al. DOI:10.1016/j.xcrm.2021.100226].