[CITATION][C] A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to …

M Jamwal, A Aggarwal, A Palodi… - British Journal of …, 2019 - Wiley Online Library
M Jamwal, A Aggarwal, A Palodi, P Sharma, D Bansal, A Maitra, R Das
British Journal of Haematology, 2019Wiley Online Library
Hexokinase (HK) catalyses the first, rate-limiting step of the glycolytic pathway, converting
glucose to glucose-6-phosphate. Mammalian HK has four main isozymes: HK1, HK2, HK3
and HK4, encoded by different genes. HK1 is ubiquitously expressed, but with predominant
expression in the brain, erythrocytes, testis and other tissues where glycolysis serves as the
major source of ATP production. Erythrocytes express two major isoforms formed by the
alternative splicing of the HK1 gene: HK-R (NM_033496, NP_277031) and
Hexokinase (HK) catalyses the first, rate-limiting step of the glycolytic pathway, converting glucose to glucose-6-phosphate. Mammalian HK has four main isozymes: HK1, HK2, HK3 and HK4, encoded by different genes. HK1 is ubiquitously expressed, but with predominant expression in the brain, erythrocytes, testis and other tissues where glycolysis serves as the major source of ATP production. Erythrocytes express two major isoforms formed by the alternative splicing of the HK1 gene: HK-R (NM_033496, NP_277031) and
Wiley Online Library