RBCC Red Blood Cell Collection

RADI_HUMAN

Source: hRBCD ; ID: IPI00017367
PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: RDX
Protein names and data: RADI_HUMAN , Radixin Lenght: 583 a.a.
Mass: 68564 Da
fasta formatted sequence
Function: Probably plays a crucial role in the binding of the barbed end of actin filaments to the plasma membrane.
Disease: ( OMIM: 179410 611022 ) Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cleavage furrow. Note=Highly concentrated in the undercoat of the cell-to-cell adherens junction and the cleavage furrow in the interphase and mitotic phase, respectively.

Genetic variants

328 - 328 K -> E (in dbSNP:rs17854427). VAR_036857 17854427
490 - 490 D -> N (in dbSNP:rs34471100). VAR_036858 34471100
578 - 578 D -> N (in DFNB24). VAR_036859

Database cross-references

UniProt: P35241
Ensembl: ENST00000343115
Ensembl: ENST00000405097
Ensembl: ENST00000528498
Ensembl: ENST00000528900
Ensembl: ENST00000530301
Ensembl: ENST00000530749
Ensembl: ENST00000544551
MIM: 179410
MIM: 611022
neXtProt: NX_P35241
Antibodypedia: P35241 (may not find the protein thus also not any antibody)
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