1. Gene
  2. MLPH - melanophilin Gene

MLPH - melanophilin Gene

Homo sapiens

Also known as SLAC2-A

Gene ID: 79083 | Gene type: protein coding

About MLPH

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,486,410-237,555,322 (from NCBI)

This gene has 23 transcripts (splice variants), 262 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 28.6), prostate (RPKM 26.5) and 12 other tissues.

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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

MLPH Products(4)

mRNA Protein Name
NM_001042467.3 NP_001035932.1 melanophilin isoform 2
NM_001281473.2 NP_001268402.1 melanophilin isoform 3
NM_001281474.2 NP_001268403.1 melanophilin isoform 4
NM_024101.7 NP_077006.1 melanophilin isoform 1

MLPH Protein Structure

FYVE_2

FYVE_2: FYVE-type zinc finger (8 - 125)

Rab_eff_C

Rab_eff_C: Rab effector MyRIP/melanophilin C-terminus (456 - 511)

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  • 500
  • 600 a.a.
Protein Preferred Names Protein Names

melanophilin

exophilin-3

Related Diseases

Diseases Alias
Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3

GS3

Griscelli-Prunieras Syndrome Type 3

Hypomelanosis With No Immunologic Or Neurologic Manifestations

Griscelli Syndrome 3

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment

Psoriasis 15

Psors15

Fetishism

Fetishism, Psychiatric

Mucinoses
Familial Cold Autoinflammatory Syndrome 2

FCAS2

Nlrp12-Associated Hereditary Periodic Fever Syndrome

Familial Cold Autoinflammatory Syndrome Type 2

Familial Cold-Induced Autoinflammatory Syndrome Type 2

Naps12

Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

Autoinflammatory Syndrome, Cold, Familial, Type 2

Microvillus Inclusion Disease

Congenital Microvillous Atrophy

Intractable Diarrhea Of Infancy

Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities

Davidson Disease

Microvillous Inclusion Disease

Congenital Microvillus Atrophy

Mvid

Diarrhea 2 With Microvillus Atrophy

Mvd

Congenital Familial Protracted Diarrhea

Davidson'S Disease

Familial Enteropathy, Microvillus

Microvillus Atrophy, Congenital

Congenital Enteropathy

Familial Protracted Enteropathy

Microvillous Atrophy

Microvillus Atrophy With Diarrhea 2

Idi

Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Dyschromatosis Universalis Hereditaria

Duh

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MLPH MGD MGI:2176380
Bos taurus MLPH VGNC VGNC:31506
Rattus norvegicus MLPH RGD RGD:1310733
Macaca mulatta MLPH VGNC VGNC:99383
Canis familiaris MLPH VGNC VGNC:43265
Felis catus MLPH VGNC VGNC:63526