Protein 4.2

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Erythrocyte membrane protein band 4.2
Identifiers
Symbols EPB42 ; PA; SPH5
External IDs OMIM177070 MGI95402 HomoloGene93 GeneCards: EPB42 Gene
RNA expression pattern
PBB GE EPB42 210746 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2038 13828
Ensembl ENSG00000166947 ENSMUSG00000023216
UniProt P16452 P49222
RefSeq (mRNA) NM_000119 NM_013513
RefSeq (protein) NP_000110 NP_038541
Location (UCSC) Chr 15:
43.4 – 43.51 Mb
Chr 2:
121.02 – 121.04 Mb
PubMed search [1] [2]

Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.[1][2]

Protein 4.2 is a cytoskeleton protein found in red blood cells.

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia.[2]

References[edit]

  1. ^ White RA, Peters LL, Adkison LR, Korsgren C, Cohen CM, Lux SE (Jun 1993). "The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene". Nat Genet 2 (1): 80–83. doi:10.1038/ng0992-80. PMID 1284644. 
  2. ^ a b "Entrez Gene: EPB42 erythrocyte membrane protein band 4.2". 

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