SLC44A4 solute carrier family 44 member 4
Gene ID: 80736, updated on 5-Mar-2024Gene type: protein coding
Also known as: CTL4; NG22; TPPT; DFNA72; hTPPT1; C6orf29
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC44A4
- Go to Variation Viewer for SLC44A4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. GeneReviews: Not available | |
| Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. GeneReviews: Not available | |
| Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. GeneReviews: Not available | |
| Hearing loss, autosomal dominant 72 | See labs |
| Loci at chromosomes 13, 19 and 20 influence age at natural menopause. GeneReviews: Not available |
Genomic context
- Location:
- 6p21.33
- Sequence:
- Chromosome: 6; NC_000006.12 (31863192..31878997, complement)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC44A4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC44A4 database
- Variation ViewerRelated Variants
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