FER1L3

Name

myoferlin

Type

protein-coding

Position

93,306,429–93,482,334 (−)

Aliases

FER1L3, HAE7

Ensembl

ENSG00000138119

RefSeq RNA

NM_013451.4, NM_133337.3, XM_005269693.5, XM_005269694.6, XM_017016068.3

RefSeq protein

NP_038479.1, NP_579899.1, XP_005269750.1, XP_005269751.1, XP_016871557.1

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, Dec 2008].