C205612Level 8
ALPK1 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - 8430410J10Rik - Alpha Kinase 1 wt Allele - Chromosome 4 Kinase Gene - FLJ22670 - KIAA1527 - LAK - Lak - Lymphocyte Alpha Kinase Gene - Lymphocyte Alpha-Kinase Gene - ROSAH
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