Early Detection Research Network

DYSF

Aliases:
This biomarker is also known as:
  • dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive),
  • Fer-1-like protein 1,
  • FER1L1,
  • Dystrophy-associated fer-1-like protein,
  • dystrophy-associated fer-1-like 1,
  • LGMD2B,
  • fer-1-like protein 1,
  • DYSF,
  • dysferlin,
  • dystrophy-associated fer-1-like protein,
  • MMD1,

Description…

From NCBI Gene: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: DYSF

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.