C207241Level 5
CNTN1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CNTN1 wild-type allele is located in the vicinity of 12q12 and is approximately 380 kb in length. This allele, which encodes contactin-1 protein, is involved in the formation of axon connections in the developing nervous system. Mutations in the gene are associated with congenital myopathy-12 (Compton-North congenital myopathy).
**Synonyms:** - CMYP12 - Contactin 1 wt Allele - F3 - GP135 - Glycoprotein GP135 Gene - MYPCN
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