UniProt functional annotation for P48788

UniProt code: P48788.

Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Function:		Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Subunit:		Binds to actin and tropomyosin.
Disease:		Arthrogryposis, distal, 2B1 (DA2B1) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant. {ECO:0000269|PubMed:12592607}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the troponin I family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.