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Protein Coding Gene : Myof myoferlin

Primary Identifier  MGI:1919192 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  226101
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables phospholipid binding activity. Involved in plasma membrane repair and regulation of vascular endothelial growth factor receptor signaling pathway. Acts upstream of or within T-tubule organization; cellular response to heat; and glycerol metabolic process. Located in caveola. Is expressed in genitourinary system; lens; and thyroid gland. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [provided by MGI curators]
  • synonyms:
  • myoferlin,
  • RIKEN cDNA E030042N20 gene,
  • Myof,
  • 2310051D19Rik,
  • E030042N20Rik,
  • fer-1-like 3, myoferlin (C. elegans),
  • RIKEN cDNA 2310051D19 gene,
  • MGI:2442992,
  • Fer1l3

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

1 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

 

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0 Driver For