EPB41 gene

erythrocyte membrane protein band 4.1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to membranes.

From NCBI Gene:

  • Elliptocytosis 1

From UniProt:

Elliptocytosis 1 (EL1): A Rhesus-linked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. [MIM:611804]

Cytogenetic Location: 1p35.3, which is the short (p) arm of chromosome 1 at position 35.3

Molecular Location: base pairs 28,887,091 to 29,120,046 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p35.3, which is the short (p) arm of chromosome 1 at position 35.3
  • 4.1R
  • EL1
  • HE