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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