Gene: [02q35/DES] desmin (skeletin; intermediate filament, muscle type); distal myopathy with cardiomyopathy;
GEN | The gene length is 8.4 kb. Exons: 9; introns: 8 (their length varies within the range of 0.1-2.2 kb; the total length is 6 kb ). Two largest introns contain Alu-repeats - three in the 6th intron (2.2 kb) and one in the 7th intron (1.8 kb). The mature transcript is 2.2 kb. The polypeptide product consists of 468 amino acid residues (52 kD)." |
REF | FOG,PHE,PAT "Edstrom
&: J Neurol Sci, 47, 171-190, 1980 FOG,PHE,PAT "Goebel &: Brain Develop, 2, 387-400, 1980 MUT "Goldfarb LG &: Nature Genet, 19, N4, 402-403, 1998 CLO,GEN,SEQ,EVO "Li ZL &: Gene, 78, 243-254, 1989 MUT "Munoz-Marmol AM &: PNAS, 95, N19, 11312-11317, 1998 FOG,PHE,PAT "Porte &: Virchow Arch A, 386, 43-58, 1980 LOC,MOL "Quax W &: Gene, 38, 189-196, 1985 FOG,PHE,PAT "Stoeckel &: Virchow Arch A, 393, 53-60, 1981 CLO,SEQ,LOC "Vicart P &: Hum Genet, 98, N4, 422-429, 1996 |
SWI | SWISSPROT: P17661 |
KEY | cysk, neu, card, myo |
CLA | coding, basic |
LOC | 02 q35 |
MIM | MIM: 125660 |
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