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- Table of Contents
Facts about Myoferlin.
Implicated in VEGF signal transduction by regulating the amount of the receptor KDR (By similarity). .
Human | |
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Gene Name: | MYOF |
Uniprot: | Q9NZM1 |
Entrez: | 26509 |
Belongs to: |
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ferlin family |
fer-1 (C.elegans)-like 3 (myoferlin); FER1L3; fer-1-like 3, myoferlin (C. elegans); fer-1-like 3, myoferlin; Fer-1-like protein 3; FLJ36571; FLJ90777; KIAA1207; myoferlin
Mass (kDA):
234.709 kDA
Human | |
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Location: | 10q23.33 |
Sequence: | 10; NC_000010.11 (93306429..93482505, complement) |
Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain.
Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures.
PMID: 10607832 by Davis D.B., et al. Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
PMID: 10995573 by Britton S., et al. The third human FER-1-like protein is highly similar to dysferlin.