AK9

Chr 6

adenylate kinase 9

Also known as: AK 9, AKD1, AKD2, C6orf199, C6orf224, SPGF89, dJ70A9.1

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 89
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.74
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 3.71
OE 0.59 (0.480.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.19Z-score
OE missense 0.80 (0.750.85)
725 obs / 911.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.59 (0.480.74)
00.351.4
Missense OE?0.80 (0.750.85)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 57 / 96.3Missense obs/exp: 725 / 911.4Syn Z: 2.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AK9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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