SLC44A4 Chromosome 6
Solute carrier family 44 member 4
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 44
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204385
Associated Conditions (2)
Hearing loss
autosomal dominant 72
Key Variants
RS150385253
Conflicting classifications of pathogenicity
Health Risk
RS374954632
Conflicting classifications of pathogenicity
Health Risk
RS559523018
Conflicting classifications of pathogenicity
Health Risk
RS774865421
Conflicting classifications of pathogenicity
Hearing loss, autosomal dominant 72, Hearing loss
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150385253 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374954632 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559523018 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774865421 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal dominant 72, Hearing loss |