ALPK1
Chr 4ADalpha kinase 1
Also known as: 8430410J10Rik, LAK, ROSAH
This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALPK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
RECRUITINGA Method Characterization Study to Evaluate Thermoregulatory Sweat Production in Healthy Volunteers and Patients With ROSAH Syndrome)
NOT YET RECRUITINGFamilial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
RECRUITINGExternal Resources
Links to major genomics databases and tools