Description:
ADENYLATE KINASE 1; AK1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Alternate IDs |
GM17160 [ADENYLATE KINASE 1; AK1] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| adenylate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.4.3; 20% activity. |
| |
| adenylate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.4.3; 0% activity. |
| |
| adenylate kinase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.4.3; 17% activity. |
| |
| Remarks |
Clinically normal; no detectable AK activity in RBCs, 20% of normal activity in fibroblasts, & 17% of normal activity in leukocytes; similarly affected sib; parents have 50-60% of normal AK activity in RBCs |
| Beutler, Red cell adenylate kinase deficiency: Another non-disease? Blood60:33A (1982): 1982 |
| PubMed ID: |
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