EPB41L1 Chromosome 20
Erythrocyte membrane protein band 4.1 like 1
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What This Gene Does
Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
"Erythrocyte membrane protein band 4.1|FERM domain containing"
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000088367
Associated Conditions (4)
Complex neurodevelopmental disorder
Intellectual disability
autosomal dominant 11
Abnormal brain morphology
Key Variants
RS142447348
Conflicting classifications of pathogenicity
Health Risk
RS200358974
Conflicting classifications of pathogenicity
Health Risk
RS371544808
Conflicting classifications of pathogenicity
Health Risk
RS374477689
Conflicting classifications of pathogenicity
Health Risk
RS375302378
Conflicting classifications of pathogenicity
Health Risk
RS757708154
Conflicting classifications of pathogenicity
Health Risk
RS761212463
Conflicting classifications of pathogenicity
Health Risk
RS778642222
Conflicting classifications of pathogenicity
Complex neurodevelopmental disorder, Intellectual disability, autosomal dominant 11
Health Risk
RS1060499773
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142447348 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200358974 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371544808 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374477689 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375302378 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757708154 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761212463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS778642222 | Health Risk | Conflicting classifications of pathogenicity | Complex neurodevelopmental disorder, Intellectual disability, autosomal dominant 11 |
| RS1060499773 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |