MLPH Antibody

1. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. PMID: 27016801
2. we detected two potential associations with well-recognized skin cancer risk traits that modify miRNA-mRNA interactions: rs2325814 in the 3'UTR of the MLPH gene and rs752107 in the 3'UTR of the WNT3A gene. PMID: 28266728
3. These results unravel a hidden link between AR and a functional putative PCa risk SNP, whose allele alteration affects androgen regulation of its host gene MLPH. PMID: 26411452
4. The results showed that Rab27A(Q78L) is unable to localize on mature melanosomes and that its inhibitory activity on melanosome transport is completely dependent on its binding to the Rab27A effector Slac2-a/melanophilin. PMID: 24584932
5. The pathologic defect in Griscelli syndrome 3 came from the MLPH R35W substitution, which induced aggregation of melanosomes in the perinuclear area of melanocytes because of failure to interact with RAB27A. PMID: 21883982
6. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport PMID: 11856727
7. links rab27a and myosin Va function in melanosome transport PMID: 11980908
8. Melanophilin has a role in bridging Rab27a on melanosomes and myosin Va on actin filaments during melanosome transport. PMID: 12062444
9. SHD1 of Slac2-a/melanophilin alone is both necessary and sufficient for high affinity specific recognition of the GTP-bound form of Rab27A PMID: 12189142
10. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). PMID: 12897212
11. deletion 2q37.3 is implicated in autism PMID: 15517821
12. The C-terminus of Slac2-a/melanophilin contains a novel actin-binding site, which may be involved in capture of Rab27-containing organelles in the actin-enriched cell periphery. PMID: 12221080
13. Slac2-a/melanophilin contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-a specifically and directly binds the GTP-bound form of Rab27A and Rab27B (PMID: 11773082). The C-terminus of Slac2-a directly binds myosin Va. PMID: 11856727

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HGNC: 29643

OMIM: 606526

KEGG: hsa:79083

STRING: 9606.ENSP00000264605

UniGene: Hs.102406