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Protein Coding Gene : Mlph melanophilin

Primary Identifier  MGI:2176380 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  171531
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables cytoskeletal protein binding activity; molecular adaptor activity; and small GTPase binding activity. Acts upstream of or within melanocyte differentiation; melanosome localization; and protein targeting. Located in cytoskeleton and melanosome. Part of unconventional myosin complex. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system gland; liver; and musculature. Human ortholog(s) of this gene implicated in Griscelli syndrome type 3. Orthologous to human MLPH (melanophilin).
PHENOTYPE: Homozygous targeted null mutants affect viability and body size, and result in abnormal lungs, kidneys, immune system, hematopoiesis, myelopoiesis, and anomalies in cerebellar foliation and neuronal cell layer development. [provided by MGI curators]
  • synonyms:
  • expressed sequence AW228792,
  • leaden,
  • D1Wsu84e,
  • Slac-2a,
  • Mlph,
  • AW228792,
  • MGI:106570,
  • ln,
  • DNA segment, Chr 1, Wayne State University 84, expressed,
  • 2210418F23Rik,
  • MGI:2151781,
  • MGD-MRK-34264,
  • MGD-MRK-11670,
  • 5031433I09Rik,
  • MGI:96801,
  • MGI:2138582,
  • MGD-MRK-11713,
  • MGI:1917398,
  • melanophilin,
  • MGD-MRK-11834,
  • MGI:1926061

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For