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C75898Level 4

PLP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PLP1 wild-type allele is located in the vicinity of Xq22 and is approximately 16 kb in length. This allele, which encodes myelin proteolipid protein, plays a role in the modulation of neuronal development and function. Mutation of the gene is associated with both Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

**Synonyms:** - MMPL - PLP - PLP/DM20 - PMD - Proteolipid Protein 1 (Pelizaeus-Merzbacher Disease, Spastic Paraplegia 2, Uncomplicated) wt Allele - SPG2

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