SLC45A1 Chromosome 1
Solute carrier family 45 member 1
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What This Gene Does
This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Solute carrier family 45
Locus Type
gene with protein product
Location
1p36.23
Ensembl
ENSG00000162426
Associated Conditions (1)
Intellectual developmental disorder with neuropsychiatric features
Key Variants
RS781036625
Conflicting classifications of pathogenicity
Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features
Health Risk
RS150539474
Likely pathogenic
Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781036625 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features |
| RS150539474 | Health Risk | Likely pathogenic | Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features |