2024年12月25日 · SLC5A7 (Solute Carrier Family 5 Member 7) is a Protein Coding gene. Diseases associated with SLC5A7 include Myasthenic Syndrome, Congenital, 20, Presynaptic and Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7.

The high-affinity choline transporter (ChT) also known as solute carrier family 5 member 7 is a protein in humans that is encoded by the SLC5A7 gene. [5] It is a cell membrane transporter and carries choline into acetylcholine-synthesizing neurons.

2025年2月8日 · Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene. Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression. Choline-induced SLC5A7 impairs colorectal cancer growth by stabilizing p53 protein.

SLC5A7/CHT1. CHT1 is a high-affinity Na + /choline transporter (K m = 2 μM), which is exclusively expressed in tissues containing cholinergic neurons. There, its transport activity constitutes the rate-limiting step for acetylcholine synthesis [84, 118].

2016年10月4日 · SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000).

2025年2月8日 · Enables choline binding activity and choline transmembrane transporter activity. Involved in acetylcholine biosynthetic process and choline transport. Acts upstream of or within cholinergic synaptic transmission; in utero embryonic development; and neuromuscular synaptic transmission. Located in neuronal cell body and presynaptic membrane.

2023年11月23日 · Clinical resource with information about SLC5A7, Congenital myasthenic syndrome, Congenital myasthenic syndrome 20, Neuronopathy, distal hereditary motor, type 7A, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

SLC5A7/CHT1-mediated choline high-affinity transport in cholinergic neurons is the rate-limiting step for production of ACh, thereby facilitating communication by subsequent action potentials 14.

2022年1月28日 · Examination of the molecular mechanism reveals that SLC5A7 promotes p53 protein expression by directly interacting with and modifying p53 and disrupting the interaction between p53 and MDM2 in wild type p53 CRC cells.

2022年7月20日 · SLC5A7 (solute carrier family 5 member 7), also known as choline transporter 1 (CHT1), is downregulated in colorectal cancer (CRC) and functions as a tumor suppressor. However, the mechanisms underlying the inactivation of SLC5A7 in CRC remain to be elucidated.