RBCC Red Blood Cell Collection

CAH8_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CA8 , CALS
Protein names and data: CAH8_HUMAN , Carbonic anhydrase-related protein; CARP , Carbonic anhydrase VIII; CA-VIII Lenght: 290 a.a.
Mass: 32973 Da
fasta formatted sequence
Function: Does not have a carbonic anhydrase catalytic activity.
Disease: ( OMIM: 114815 613227 ) Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]: A congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

100 - 100 S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation). VAR_063634

Database cross-references

UniProt: P35219
Ensembl: ENST00000317995
MIM: 114815
MIM: 613227
neXtProt: NX_P35219
Antibodypedia: P35219 (may not find the protein thus also not any antibody)
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