CA8
entrez
767
canonical
uniprot
P35219
canonical
ensembl
ENSG00000178538
resolver
ensp
ENSP00000314407
resolver
ensp
ENSP00000539843
resolver
ensp
ENSP00000613676
resolver
ensp
ENSP00000785230
resolver
enst
ENST00000317995
resolver
enst
ENST00000943617
resolver
genesymbol
CA8
resolver
genesymbol_syn
CALS
resolver
hgnc
HGNC:1382
resolver
uniprot
A8K0A5
resolver
uniprot
B3KQZ7
resolver
uniprot
Q32MY2
resolver
uniprot_entry
CAH8_HUMAN
resolver
uniprot_sec
A8K0A5
resolver
uniprot_sec
B3KQZ7
resolver
uniprot_sec
Q32MY2
resolver
amino_acid_sequence
MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRLSPNYVVCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMELHLIHWNSTLFGSIDEAVGKPHGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDPLLRDYWVYEGSLTIPPCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRPTQPLSDRVIRAAFQ
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 34 (SCAR34) [MIM:613227]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR34 is characterized by congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. {ECO:0000269|PubMed:19461874}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Does not have a carbonic anhydrase catalytic activity.
uniprot
proteins
mass_dalton
32973
uniprot
proteins
protein_family
Alpha-carbonic anhydrase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19360879
uniprot
proteins
pubmed
19461874
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
8482548
uniprot
proteins
sequence_length
290
uniprot
proteins