pnrobinson
commented
6 months ago @MickeySegal Adding new term:
- ID: HP:6000723
- label: Reduced erythrocyte galactokinase activity
- parents: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
- pmid: PMID:7670469
- def: Activity or concentration of in the level of galactokinase (EC 2.7.1.6) in erythrocytes below the lower limit of normal.
- comment: Galactokinase catalyzes the phosphorylation of galactose to galactose-1-phosphate, the first step in galactose metabolism.
- orcid: orcid:0000-0002-0736-9199
- github ID: https://github.com/obophenotype/human-phenotype-ontology/issues/8217
- synonyms:
New term request Galactokinase activity low in erythrocytes (elthat_100806151824): GALK; RBCs, red blood cells UMLS: 2673555