RBCC Red Blood Cell Collection

ALDOA_HUMAN

Source: hRBCD ; ID: IPI00395757
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: ALDOA , ALDA
Protein names and data: ALDOA_HUMAN , Fructose-bisphosphate aldolase A; 4.1.2.13 , Lung cancer antigen NY-LU-1; Muscle-type aldolase Lenght: 364 a.a.
Mass: 39420 Da
fasta formatted sequence
Function: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).
Catalytic activity: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4.
Disease: ( OMIM: 103850 611881 ) Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

82 - 82 E -> Q (in dbSNP:rs11553107). VAR_048219 11553107
129 - 129 D -> G (in GSD12; thermolabile). VAR_000550
142 - 142 G -> V (in dbSNP:rs11553108). VAR_048220 11553108
207 - 207 E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity). VAR_044142
339 - 339 C -> Y (in GSD12). VAR_044143
347 - 347 G -> S (in GSD12; does not affect thermal stability; 4-fold decrease in catalytic efficiency due to reduced enzyme activity; dbSNP:rs138824667). VAR_044144 138824667

Database cross-references

UniProt: P04075
Ensembl: ENST00000338110
Ensembl: ENST00000395248
Ensembl: ENST00000412304
Ensembl: ENST00000563060
Ensembl: ENST00000564546
Ensembl: ENST00000564595
Ensembl: ENST00000566897
Ensembl: ENST00000569545
MIM: 103850
MIM: 611881
neXtProt: NX_P04075
Antibodypedia: P04075 (may not find the protein thus also not any antibody)
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