SLC44A4 gene

solute carrier family 44 member 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, May 2010]

From UniProt:

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.

Cytogenetic Location: 6p21.3, which is the short (p) arm of chromosome 6 at position 21.3

Molecular Location: base pairs 31,863,192 to 31,879,046 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p21.3, which is the short (p) arm of chromosome 6 at position 21.3
  • C6orf29
  • CTL4
  • NG22
  • TPPT