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GeneQ14908148· pop 7· linked from 20 articles

Also known as erythrocyte membrane protein band 4.1, 4.1R, EL1, HE

gene umano

Gene data

EPB41
Name
erythrocyte membrane protein band 4.1
Type
protein-coding
Position
28,887,073–29,120,052 (+)
Aliases
4.1R, EL1, HE
RefSeq RNA
NM_001166005.2, NM_001166006.2, NM_001166007.2, NM_001376013.1, NM_001376014.1
RefSeq protein
NP_001159477.1, NP_001159478.1, NP_001159479.1, NP_001362942.1, NP_001362943.1

The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009].

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Gene · Ensembl

erythrocyte membrane protein band 4.1

Symbol
EPB41
Biotype
Protein coding
Organism
Homo sapiens
Location
1:28,887,073-29,120,052
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
Protein EPB41 PDB 1gg3.png
Show 9 more facts
HomoloGene ID
44324
genetic association
ALS
found in taxon
Homo sapiens
genomic end
29446553
genomic start
29213603
cytogenetic location
1p35.3
expressed in
bone marrow
Sources (7)

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