2G98

human gamma-D-crystallin

2G98 の概要

• エントリーDOI: 10.2210/pdb2g98/pdb
• 分子名称: Gamma crystallin D (2 entities in total)
• 機能のキーワード: crystalline, structural protein
• 由来する生物種: Homo sapiens (human)
• タンパク質・核酸の鎖数: 2
• 化学式量合計: 41129.70

構造登録者

Kmoch, S.,Brynda, J.,Awsav, B.,Bezouska, K.,Novak, P.,Rezacova, P. (登録日: 2006-03-06, 公開日: 2006-05-02, 最終更新日: 2023-08-30)

主引用文献

Kmoch, S.,Brynda, J.,Awsav, B.,Bezouska, K.,Novak, P.,Rezacova, P.,Ondrova, L.,Filipec, M.,Sedlacek, J.,Elleder, M.
Link between a novel human gamma-D-crystallin allele and a unique cataract phenotype explained by protein crystallography.
Hum.Mol.Genet., 12:1779-1786, 2000

PubMed Abstract: We describe a 5-year-old boy with a unique congenital cataract caused by deposition of numerous birefringent, pleiochroic and macroscopically prismatic crystals. Crystal analysis with subsequent automatic Edman degradation and matrix-associated laser desorption ionization time-of-flight mass spectrometry have identified the crystal-forming protein as gammaD-crystallin (CRYGD) lacking the N-terminal methionine. Sequencing of the CRYGD gene has shown a heterozygous C-->A transversion in position 109 of the inferred cDNA (36R-->S transversion of the processed, N-terminal methionine-lacking CRYGD). The lens protein crystals were X-ray diffracting, and our crystal structure solution at 2.25 A suggests that mutant R36S CRYGD has an unaltered protein fold. In contrast, the observed crystal packing is possible only with the mutant protein molecules that lack the bulky Arg36 side chain. This is the first described case of human cataract caused by crystallization of a protein in the lens. It involves the third known mutation in the CRYGD gene but offers, for the first time, a causative explanation of the phenotype.

PubMed: 10915766
DOI: 10.1093/hmg/9.12.1779

実験手法

X-RAY DIFFRACTION (2.2 Å)