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- Table of Contents
Facts about Melanophilin.
.
Human | |
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Gene Name: | MLPH |
Uniprot: | Q9BV36 |
Entrez: | 79083 |
Belongs to: |
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No superfamily |
exophilin-3; l(1)-3Rk; l1Rk3; ln; melanophilin; MGC2771; MGC59733; SLAC2A; Slac-2a; SLAC2-A; Slp homolog lacking C2 domains a; Synaptotagmin-like protein 2a
Mass (kDA):
65.949 kDA
Human | |
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Location: | 2q37.3 |
Sequence: | 2; NC_000002.12 (237486410..237555322) |
Cytoplasm.
PMID: 12062444 by Nagashima K., et al. Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions.
PMID: 12897212 by Menasche G., et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).