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MedlinePlus Health Topics
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C1421222
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1421222
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|---|---|
| Preferred Name | titin |
| Definitions |
The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in skeletal muscles, which the body uses for movement, and in heart (cardiac) muscle. Slightly different versions (called isoforms) of titin are made from the TTN gene in different muscles.~Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle tensing (contraction); they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of the protein's main jobs is to provide structure, flexibility, and stability to these cell structures. Titin interacts with other muscle proteins, including actin and myosin, to keep the components of sarcomeres in place as muscles contract and relax. Titin also contains a spring-like region that allows muscles to stretch. Additionally, researchers have found that titin plays a role in chemical signaling and in assembling new sarcomeres.
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| Synonyms |
EOMFC
MYLK5
CONNECTIN
CMH9
TMD
LGMD2J
CMPD4
TTN
TITIN_HUMAN
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in skeletal muscles, which the body uses for movement, and in heart (cardiac) muscle. Slightly different versions (called isoforms) of titin are made from the TTN gene in different muscles.~Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle tensing (contraction); they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of the protein's main jobs is to provide structure, flexibility, and stability to these cell structures. Titin interacts with other muscle proteins, including actin and myosin, to keep the components of sarcomeres in place as muscles contract and relax. Titin also contains a spring-like region that allows muscles to stretch. Additionally, researchers have found that titin plays a role in chemical signaling and in assembling new sarcomeres. |
|---|---|
| altLabel |
EOMFC
MYLK5
CONNECTIN
CMH9
TMD
LGMD2J
CMPD4
TTN
TITIN_HUMAN
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| prefLabel | titin
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| DB XR ID | ICD-10-CM:~MeSH:~NCBI Gene:7273~OMIM:188840~SNOMED CT:
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| Has associated condition |
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| type | |
| tui | T028
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| notation | C1421222
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| Semantic type UMLS property | |
| cui | C1421222
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