background:
Choline is an essential nutrient that is required for the synthesis of both acetylcholine, a neurotransmitter found in cholinergic nerve terminals, and phosphatidylcholine, a key component of cell membranes. Choline deficiencies are associated with defects in cell growth and have been implicated in disorders such as Alzheimer’s and Parkinson’s disease. The choline transporter-like protein family (CTL) are solute carriers that transport choline, a compound which is not able to permeate cells, across the cell membrane. CTL4, also known as SLC44A4 (Solute carrier family 44 member 4), is a multi-pass membrane protein which can fuse with Neu1, generating a CTL4-Neu1 transcript. This fusion is implicated in sialidosis, a disease characterized by improper lysosomal storage.
Subcellular Location:
Membrane; Multi-pass membrane protein (By similarity).
DISEASE:
Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis.
Similarity:
Belongs to the CTL (choline transporter-like) family.
Database links:
UniProtKB/Swiss-Prot: Q53GD3.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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