Products

Western Blot (Tissue lysate)

FER1L3 polyclonal antibody (A01), Lot # 060529JCS1. Western Blot analysis of FER1L3 expression in human stomach.

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

26509

GeneBank Accession#

NM_013451

Protein Accession#

NP_038479

Gene Name

MYOF

Gene Alias

FER1L3, FLJ36571, FLJ90777

Gene Description

myoferlin

Omim ID

604603

Gene Ontology

Hyperlink

Gene Summary

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq

Other Designations

OTTHUMP00000020111|OTTHUMP00000020112|OTTHUMP00000059585|fer-1-like 3, myoferlin