full name
dysferlin

synonyms
FER1L1, LGMD2B, MMD1, DYSF, ENSG00000135636

HGNC
HGNC:3097

Entrez Gene
Gene:8291

ENSEMBL
ENSG00000135636

location
chr: 2
start: 71680347
stop: 71913895
strand: +

OMIM
OMIM:603009: DYSF (Autosomal recessive inheritance,Heterogeneous)
OMIM:254130: Miyoshi muscular dystrophy 1
OMIM:253601: Muscular dystrophy, limb-girdle, autosomal recessive 2
OMIM:606768: Myopathy, distal, with anterior tibial onset

transcripts
NM_001130979.1
NM_001130981.1
NM_001130980.1
NM_001130978.1
NM_003494.3
NM_001130977.1
NM_001130976.1
NM_001130982.1
NM_001130987.1
NM_001130985.1
NM_001130983.1
NM_001130455.1
NM_001130984.1
NM_001130986.1

pathways
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Smooth Muscle Contraction [NCBI:1269870] [REACTOME:R-HSA-445355] [PUBMED:14627618]