C152012Level 6
MLPH wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human MLPH wild-type allele is located in the vicinity of 2q37.3 and is approximately 70 kb in length. This allele, which encodes melanophilin protein, plays a role in melanosome transport. Mutation of the gene is associated with hypopigmentation in type 3 Griscelli syndrome.
**Synonyms:** - Melanophilin wt Allele - SLAC2-A - SLAC2A
GET
/api/v1/systems/nci_thesaurus/nodes/C152012Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.