RBCC Red Blood Cell Collection

WDR81_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: WDR81
Protein names and data: WDR81_HUMAN , WD repeat-containing protein 81 Lenght: 1941 a.a.
Mass: 211697 Da
fasta formatted sequence
Disease: ( OMIM: 610185 614218 ) Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (CAMRQ2) [MIM:610185]: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum.

Genetic variants

856 - 856 P -> L (in CAMRQ2). VAR_068220
1535 - 1535 M -> V (in dbSNP:rs3809870). VAR_062107 3809870

Database cross-references

UniProt: Q562E7
Ensembl: ENST00000309182
Ensembl: ENST00000409644
Ensembl: ENST00000419248
Ensembl: ENST00000437219
MIM: 610185
MIM: 614218
neXtProt: NX_Q562E7
Antibodypedia: Q562E7 (may not find the protein thus also not any antibody)
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