C124921Level 4
ACTN1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human ACTN1 wild-type allele is located in the vicinity of 14q24 or within 14q22-q24 and is approximately 105 kb in length. This allele, which encodes alpha-actinin-1 protein, is involved in the formation of F-actin crosslinks. Mutation of the gene is associated with autosomal dominant platelet-type bleeding disorder-15.
**Synonyms:** - Actinin, Alpha 1 wt Allele - Actinin, Alpha-1 Gene - BDPLT15
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