Recombinant Human Choline transporter-like protein 4 (SLC44A4), Truncated

Uniprot Id

Q53GD3

Target Species

Human

Target Name

SLC44A4

Target Full Name

Choline transporter-like protein 4

Target Function

Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury. Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis.; Has also thiamine pyrophosphate transporter activity.

Target Involvement

Deafness, autosomal dominant, 72 (DFNA72)

Target Subcellular Location

Membrane; Multi-pass membrane protein. Apical cell membrane.

Target Protein Families

CTL (choline transporter-like) family

Target Tissue Specificity

Highly expressed in colon, also detected in prostate, trachea and lung. Isoform 3 is also expressed in colon but a lower levels.

Target Research Area

Others

Target Synonyms

C6orf29; Choline transporter-like protein 4; CTL4; CTL4_HUMAN; NG22; Slc44a4; Solute carrier family 44 member 4; UNQ441/PRO874

Target Background

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene.