Erythrocyte membrane protein band 4.2 is a protein that in humans is encoded by the EPB42 gene.[5][6] It is part of the red blood cell cytoskeleton.

EPB42
Identifiers
AliasesEPB42, PA, SPH5, erythrocyte membrane protein band 4.2
External IDsOMIM: 177070; MGI: 95402; HomoloGene: 93; GeneCards: EPB42; OMA:EPB42 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000119
NM_001114134

NM_013513

RefSeq (protein)

NP_000110
NP_001107606

NP_038541

Location (UCSC)Chr 15: 43.2 – 43.22 MbChr 2: 120.85 – 120.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of band 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.[6]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166947Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023216Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 42065586.
  6. ^ a b "Entrez Gene: EPB42 erythrocyte membrane protein band 4.2".

Further reading

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