FKBP14 : FKBP prolyl isomerase 14
Description
The FKBP14 (FKBP prolyl isomerase 14) is a protein-coding gene located on chromosome 7.
The FKBP14 gene provides instructions for creating FKBP prolyl isomerase 14, also known as FKBP22. This protein resides in the endoplasmic reticulum (ER), a cellular structure involved in protein processing and transport. The ER folds and modifies newly synthesized proteins to ensure their proper 3-dimensional shape. FKBP prolyl isomerase 14 is believed to assist in protein folding, particularly for procollagens, the precursors of collagens. Collagens are intricate molecules found in the spaces between cells, known as the extracellular matrix, which provides strength, support, and elasticity to organs and tissues throughout the body. Studies suggest that FKBP prolyl isomerase 14 may also participate in processing other components of the extracellular matrix.
FKBP14, also known as FKBP22, is a peptidyl-prolyl cis-trans isomerase (PPIase) that plays a crucial role in protein folding during protein synthesis. It exhibits a strong preference for substrates containing 4-hydroxylproline modifications, notably type III collagen. Furthermore, it may also interact with type VI and type X collagens.
FKBP14 is also known as EDSKMH, EDSKSCL2, FKBP22, IPBP12.
Associated Diseases
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Ehlers-Danlos syndrome
