PTDSS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PTDSS1 wild-type allele is located in the vicinity of 8q22.1 and is approximately 75 kb in length. This allele, which encodes phosphatidylserine synthase 1 protein, plays a role in phospholipid metabolism. Mutations in the gene are associated with Lenz-Majewski hyperostotic dwarfism.

**Synonyms:** - KIAA0024 - LMHD - PSS1 - PSSA - Phosphatidylserine Synthase 1 wt Allele