The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012].
Baumann, Giunta, Krabichler, Rüschendorf, Zoppi, Colombi, Bittner, Quijano-Roy, Muntoni, Cirak, Schreiber, Zou, Hu, Romero, Carlier, Amberger, Deutschmann, Straub, Rohrbach, Steinmann, Rostásy et al.: "Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. ..." in: American journal of human genetics, Vol. 90, Issue 2, pp. 201-16, (2012) (PubMed).
Patterson, Gao, Rooney, Davis: "Genomic organization of mouse and human 65 kDa FK506-binding protein genes and evolution of the FKBP multigene family." in: Genomics, Vol. 79, Issue 6, pp. 881-9, (2002) (PubMed).
Aliases for FKBP14 抗体
FK506 binding protein 14 (FKBP14) 抗体 FK506 binding protein 14 L homeolog (fkbp14.L) 抗体 FK506 binding protein 14 (fkbp14) 抗体 FK506 binding protein 14, 22 kDa (FKBP14) 抗体 peptidyl-prolyl cis-trans isomerase FKBP14 (LOC100228355) 抗体 FK506 binding protein 14 (Fkbp14) 抗体 BC029109 抗体 EDSKMH 抗体 FKBP-14 抗体 FKBP22 抗体 IPBP12 抗体 MGC81908 抗体 MGC89927 抗体