solute carrier family 44 member 4 (SLC44A4, choline transporter-like protein 4, C6orf29, CTL4, NG22, UNQ441/PRO874)

Structure

• belongs to the CTL (choline transporter-like) family

Compartment

membrane

Alternative splicing

named isoforms=2

Pathology

• chromosomal aberration involving CTL4 is a cause of sialidosis
• rearrangement with NEU1 generates the CTL4-NEU1 transcript by fusing CTL4 to the 3'-end of NEU1

More general terms

• solute carrier family 44 (SLC44, SLC44A)
• transmembrane 10 protein

Additional terms

• sialidosis; mucolipidosis 1; lipomucopolysaccharidosis; sialidase deficiency; glycoprotein neuraminidase deficiency; neuraminidase 1 deficiency; cherry red spot-myoclonus syndrome

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8073
• OMIM: https://mirror.omim.org/entry/256550
• OMIM: https://mirror.omim.org/entry/606107
• UniProt: http://www.uniprot.org/uniprot/Q53GD3.html