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AK2 adenylate kinase 2

Also known as: ADK2; AK 2

Summary

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Reticular dysgenesis
MedGen: C0272167OMIM: 267500GeneReviews: Not available
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Genomic context

Location:
1p34
Sequence:
Chromosome: 1; NC_000001.11 (33007940..33036911, complement)
Total number of exons:
8

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