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Immunogen sequence: VVYYEPLVYN NTYVYPWWGE AMGWAFALSS MLCVPLHLLG CLLRAKGTMA ERWQHLTQPI WGLHHLEYRA QDADVRGLTT LTPVSESSKV VVVESVM
SLC6A8 (solute carrier family 6 member 8), also known as CT1 (creatine transporter 1), CRT or CRTR, is a 635 amino acid multi-pass plasma membrane protein that belongs to the sodium/neurotransporter (SNF) family. Expressed in a variety of tissues including kidney, skeletal muscle, heart, brain, prostate, testis and colon, SLC6A8 functions to transport creatine into and out of cells, specifically those found in brain and muscle tissue. Creatine, an organic acid, occurs naturally and is essential for supplying the energy needed for proper muscle and nerve function. Defects in the gene encoding SLC6A8 lead to cerebral creatine deficiency and are the cause of X-linked creatine deficiency syndrome, a rare disorder characterized by facial anomalies, seizures and mental retardation. Multiple isoforms of SLC6A8 exist due to alternative splicing events.
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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: creatine transporter 1; creatine transporter SLC6A8 variant D; creatine transporter, solute carrier family 6, member 8; CT1; MGC87396; Sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter), member 8; solute carrier family 6 (neurotransmitter transporter, creatine), member 8; Solute carrier family 6 member 8; solute carrier family 6, member 8
基因别名: AA589632; CCDS1; Creat; CRT; CRTR; CT1; CTR5; SLC6A8
UniProt ID: (Human) P48029, (Mouse) Q8VBW1
Entrez Gene ID: (Human) 6535, (Mouse) 102857
分子生物学功能: primary active transporter