AK7 Chromosome 14
Adenylate kinase 7
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What This Gene Does
This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
"Adenylate kinases|Cilia and flagella associated"
Locus Type
gene with protein product
Location
14q32.2
Ensembl
ENSG00000140057
Associated Conditions (2)
Spermatogenic failure 27
AK7-related disorder
Key Variants
RS116298211
Conflicting classifications of pathogenicity
Spermatogenic failure 27, Spermatogenic failure 27
Health Risk
RS140034560
Conflicting classifications of pathogenicity
AK7-related disorder, AK7-related disorder
Health Risk
RS1478365239
Conflicting classifications of pathogenicity
Health Risk
RS773293078
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116298211 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure 27, Spermatogenic failure 27 |
| RS140034560 | Health Risk | Conflicting classifications of pathogenicity | AK7-related disorder, AK7-related disorder |
| RS1478365239 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773293078 | Health Risk | Conflicting classifications of pathogenicity | — |