Variants
Sign InSign Up

TNNI2 Gene

troponin I2, fast skeletal type

ALIAS SYMBOLS

  • FSSV

  • DA2B

Your Results

Sign In

Description

The TNNI2 gene provides instructions for making one form of a protein called troponin I. The troponin I protein produced from the TNNI2 gene is found in skeletal muscles, which are the muscles used for movement. Troponin I is one of three proteins that make up the troponin complex in muscle cells. The troponin complex, along with calcium, helps regulate muscle tensing (contraction).

The troponin complex is part of a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres contain thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract.

When calcium levels are low, the troponin complex blocks the binding between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in the troponin complex, which exposes the binding sites and allows the thick and thin filaments to interact, leading to muscle contraction.

CHROMOSOME

11


LOCATION

p15.5


LOCUS TYPE

gene with protein product

VARIANTS

70

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:11946

  • NCBI

    7136

  • OMIM

    191043

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.