melanophilin; exophilin-3; Slp homolog lacking C2 domains a; SlaC2-a; synaptotagmin-like protein 2a (MLPH, SLAC2A)

Function

• Rab effector protein
• melanosome transport
• binds RAB27A (GTP-activated), MYO5A
  • links melanosome-bound RAB27A & the motor protein MYO5A

Structure

• contains 1 FYVE-type Zn+2 finger
• contains 1 RabBD (Rab-binding) domain

Compartment

cytoplasm

Alternative splicing

named isoforms=2

Pathology

• defects in MLPH are a cause of Griscelli syndrome type 3

More general terms

• synaptotagmin-like protein (SYTL)
• zinc finger protein
• exophilin
• phosphoprotein

Additional terms

• Griscelli syndrome type-3

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=79083
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:79083
• OMIM: https://mirror.omim.org/entry/606526
• OMIM: https://mirror.omim.org/entry/609227
• UniProt: http://www.uniprot.org/uniprot/Q9BV36.html