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:

Isoform 3: Has also thiamine pyrophosphate transporter activity.

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 (By similarity) (PubMed:23651124, PubMed:28013291). 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 (PubMed:24379411).

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL DOMINANT 72

From UniProt:

Mutations in this gene have been associated with autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

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: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33

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

Cytogenetic Location: 6p21.33, which is the short (p) arm of chromosome 6 at position 21.33
  • C6orf29
  • CTL4
  • DFNA72
  • hTPPT1
  • NG22
  • TPPT