Gene: [02q24/NEB] nebulin;
SUM | Nebulin is a family of giant myofibrillar proteins found within the sarcomeres of skeletal muscle. Over 95% of the nebulin protein consists of 185 copies of a 35- to 40-amino acid module. Most of the modules are arranged into a higher order repeating sequence termed a 'nebulin super repeat.'" |
MOP | The length of the mature transcript is 25 kb; the protein MM is 600-800 kD. |
FAG | The gene coding for nebulin-related anchoring protein is mapped to Chr 10: GEM:10q2/NRAP." |
REF | LOC,LIN "Limongi MZ &: CCG, 77, N3-4, 259-260, 1997 PAT,EXP,MOL "Patel K &: J Neurol Sci, 87, 315-326, 1988 LOC,LIN "Pelin K &: Eur J Hum Genet, 5, N4, 229-234, 1997 PRO,EXP,LOC "Stedman &: Genomics, 2, N1, 1-7, 1987 LOC,PRO "Zeviani M &: Genomics, 2, 249-256, 1988 |
SWI | SWISSPROT: P20929 |
KEY | myo, cysk |
CLA | coding, basic |
LOC | 02 q24.1-.2 |
MIM | MIM: 161650 |
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