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General Comment |
Protein 4.1 of red blood cells, or 4.1R (EPB41; 130500), is a multifunctional protein essential for maintaining erythrocyte shape and membrane mechanical properties. The protein 4.1 family comprises a group of structural proteins that includes, in addition to 4.1R, 4.1G (general type; 603237), 4.1B (brain type; 605331), 4.1N (neuron type; 602879), and 4.1O (ovary type).
CLONING
During large-scale sequence analysis of a fetal brain cDNA library, Ni et al. (2003) cloned a cDNA encoding 4.1O. The 553-amino acid 4.1O protein shares 38% identity with the 4.1B protein and contains a FERM domain. PCR analysis of 16 human tissues showed expression of 4.1O only in ovary.
NCBI Summary:
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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