Gene: [01q2/TPM3] tropomyosin 3 (non-muscle); nemaline myopathy 1, autosomal dominant (MIM:161800); [NEM1 TPM ]
|
SUM |
[1] The TPM3 gene is expressed more in slow, type I, muscle fibers than in
fast muscle fibers and the heart.
[2] Laing-1995 sought mutations in the gene in affected members of a family with this disorder and identified a missense mutation in a putative actin-binding site near the N-terminus of the TPM3 gene. This assignment placed TPM3 near the locus associated with autosomal dominant nemaline myopathy, thus making TPM3 a candidate for that disorder. This localization also placed TPM3 in close proximity to NTRK1 (GEM:01q2/NTRK1), so that a gene fusion rearrangement (Butti-1995) involving these 2 genes would not be cytologically detectable." |
|
HET |
On nemaline myopathy 2 (autosomal recessive form) see GEM:02q2/NEM2. |
|
REL |
GEM:15q221/TPM1; GEM:01q2/NTRK1. |
|
REF |
HET,PAT "Arts WF &: Arch Neurol, 35, 72-77, 1978 GEN,ABR,SEQ,PAT "Butti MG &: Genomics, 28, 15-24, 1995 MUT "Laing NG &: Nature Genet, 9, 75-79, 1995 PAT,LOC,LIN "Laing NG &: AJHG, 50, N3, 576-583, 1992 IDN,FUN,PAT,SEQ,MOP,LOC,FAG "Martin-Zanca D &: Nature, 319, 743-748, 1986 LOC "Wilton SD &: CCG, 68, 122-124, 1995 |
|
KEY |
myo, cysk |
|
CLA |
coding, basic |
|
LOC |
01 q22-23 |
|
MIM |
MIM: 191030 |
|
SYN |
NEM1 TPM |
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