XB-FEAT-6071380: Difference between revisions
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Human name has changed for Entrez Gene: 7169. From tropomyosin 2 (beta) to tropomyosin 2 | Human name has changed for Entrez Gene: 7169. From tropomyosin 2 (beta) to tropomyosin 2 | ||
=summary= | |||
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] | |||
=OMIM disease= | |||
cap disease, | |||
nemaline myopathy | |||
distal arthrogryposis syndromes. | |||
Latest revision as of 09:04, 31 May 2017
tpm2
This is the community wiki page for the gene tpm2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
05/29/2017 Human name has changed for Entrez Gene: 7169. From tropomyosin 2 (beta) to tropomyosin 2
summary
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
OMIM disease
cap disease, nemaline myopathy distal arthrogryposis syndromes.