Gene: SLC6A8
Alternate names for this Gene: CCDS1|CRT|CRTR|CT1|CTR5
Gene 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.
Gene is located in Chromosome: X
Location in Chromosome : Xq28
Description of this Gene: solute carrier family 6 member 8
Type of Gene: protein-coding
Gene: PNCK
Alternate names for this Gene: BSTK3|CaMK1b
Gene Summary: PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008].
Gene is located in Chromosome: X
Location in Chromosome : Xq28
Description of this Gene: pregnancy up-regulated nonubiquitous CaM kinase
Type of Gene: protein-coding
rs122453115 in
SLC6A8;PNCK gene and
Creatine deficiency, X-linked
PMID 11898126 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 17465020 2007 Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
PMID 25861866 2015 Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
PMID 17101918 2006 High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
PMID 15154114 2004 High prevalence of SLC6A8 deficiency in X-linked mental retardation.
PMID 23660394 2013 Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
PMID 12210795 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.