C213089Level 5
TNNI2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human TNNI2 wild-type allele is located in the vicinity of 11p15.5 and is approximately 3 kb in length. This allele, which encodes troponin I, fast skeletal muscle protein, plays a role in striated muscle relaxation. Mutations in the gene are associated with distal arthrogryposis type 2B.
**Synonyms:** - AMCD2B - Arthrogryposis Multiplex Congenita, Distal, Type 2B Gene - DA2B - DA2B1 - FSSV - Troponin I Fast Twitch Gene - Troponin I Type 2 (Skeletal, Fast) Gene - Troponin I, Fast-Twitch Skeletal Muscle Isoform Gene - Troponin I, Skeletal, Fast Gene - Troponin I2, Fast Skeletal Type wt Allele - fsTnI
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Cross-system equivalences0
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