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MLPH melanophilin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042467 Homo sapiens melanophilin (MLPH), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_024101 Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol MLPH
Entrez Gene ID 79083
Full Name melanophilin
Synonyms MGC2771, MGC59733, SLAC2-A
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q37.3

Summary This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008].
Disorder

MIM: 606526

Griscelli syndrome, type 3, 609227 (3)

mRNA Protein Product Sequence Price Select
NM_001042467, 109826350 NP_001035932, 109826351 melanophilin isoform 2 ORF Sequence $700.00
NM_024101, 109826363 NP_077006, 13129108 melanophilin isoform 1 ORF Sequence $700.00
WikiPathways
WP2291Deregulation of Rab and Rab Effector Genes in Bladder Cancer
Homo sapiens (human)MLPHNP_077006.1
Pan troglodytes (chimpanzee)MLPHXP_516180.3
Canis lupus familiaris (dog)MLPHNP_001096689.2
Bos taurus (cattle)MLPHNP_001075066.1
Mus musculus (house mouse)MlphNP_443748.2
Rattus norvegicus (Norway rat)MlphNP_001012135.1
Gallus gallus (chicken)MLPHNP_001108552.1
Danio rerio (zebrafish)mlphbNP_001073147.1
GeneCards MLPH
UniProt Q9BV36
MIM 606526
Ensembl ENSG00000115648
HGNC 29643
HPRD 09409

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
melanophilin
Names
melanophilin
exophilin-3
synaptotagmin-like protein 2a
slp homolog lacking C2 domains a

Interactant



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