SLC6A8

Description		solute carrier family 6 member 8
Image		No pdb structure
GO Annotations	Cellular Component	Plasma Membrane Integral Component Of Plasma Membrane Integral Component Of Membrane
	Molecular Function	Molecular_function Creatine Transmembrane Transporter Activity Creatine:sodium Symporter Activity
	Biological Process	Creatine Metabolic Process Neurotransmitter Transport Muscle Contraction Creatine Transmembrane Transport Sodium Ion Transmembrane Transport Nitrogen Compound Transport
Pathways		Creatine metabolism
Drugs		Creatine Phosphocreatine
Diseases		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Non-syndromic X-linked mental retardation Creatine deficiency syndrome, including: Arginine:glycine amidinotransferase deficiency (AGAT deficiency); Guanidinoacetate methyltransferase deficiency (GAMT deficiency); X-linked creatine deficiency syndrome (XL-CDS)
GWAS
Novel Interacting Genes		1 novel interacting genes: TAFAZZIN
Interacting Genes		3 interacting genes: BDKRB1 CD59 CHRM5
Entrez ID		6535
HPRD ID		02073
Ensembl ID		ENSG00000130821
Uniprot IDs		P48029 Q59EV7 X5D9C4
PDB IDs
Enriched GO Terms of Interacting Partners?
Tagcloud ?