UniProt functional annotation for P07316

UniProt code: P07316.

Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Function:		Crystallins are the dominant structural components of the vertebrate eye lens.
Subunit:		Monomer. {ECO:0000250}.
Domain:		Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Disease:		Cataract 39, multiple types (CTRCT39) [MIM:615188]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts. {ECO:0000269|PubMed:23288985}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the beta/gamma-crystallin family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.