EPB41L4A Chromosome 5
Erythrocyte membrane protein band 4.1 like 4A
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What This Gene Does
The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
5q22.1-q22.2
Ensembl
ENSG00000129595
Associated Conditions (2)
Failure to thrive
Spastic paraplegia
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS730882207 | Health Risk | Likely pathogenic | Failure to thrive, Spastic paraplegia, Failure to thrive |