ALPK1 wt Allele

Preferred Label : ALPK1 wt Allele;

NCIt synonyms : Lymphocyte Alpha Kinase Gene; Alpha Kinase 1 wt Allele; Lak; ROSAH; Chromosome 4 Kinase Gene; Lymphocyte Alpha-Kinase Gene; 8430410J10Rik; KIAA1527; FLJ22670;

NCIt definition : Human ALPK1 wild-type allele is located in the vicinity of 4q25 and is approximately 157 kb in length. This allele, which encodes alpha-protein kinase 1 protein, plays a role in serine/threonine-protein phosphorylation, pathogen-associated molecular pattern metabolite (PAMP) recognition and the innate immune response. Mutation in the gene is associated with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache) syndrome.;

NCI Metathesaurus CUI : CL1928317;

GenBank Accession Number : AY044164;

Details

Origin ID

C205612;

OMIM relation
- Alpha kinase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q25 [NCIt concept]
gene_plays_role_in_process
- Antibacterial Response [NCIt concept]
- Immune Response Process [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

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