Reference for FKBP14. Search for FKBP14

AI searches containing FKBP14

FKBP14

FKBP14

Protein-coding gene in humans

FKBP14 is a gene which codes for a structural protein named FKBP prolyl isomerase 14. This protein is believed to aid in the process of procollagen folding

FKBP14

Ehlers–Danlos syndrome

Group of genetic connective tissues disorders

carinatum). It can be caused by variations in the gene PLOD1, or rarely, in the FKBP14 gene. Musculocontractural EDS (mcEDS) is characterized by congenital multiple

Ehlers–Danlos syndrome

Ehlers–Danlos_syndrome

Kyphoscoliosis

Abnormal spinal curvature in the coronal and sagittal planes

Ehlers–Danlos syndrome. It is caused by a mutation in the PLOD1 gene or FKBP14 gene. The diagnosis is confirmed by molecular testing and suggested when

Kyphoscoliosis

FKBP

Protein family

FKBP2; FKBP3; FKBP4; FKBP5; FKBP6; FKBP7; FKBP8; FKBP9; FKBP10; FKBP11; FKBP14; FKBP15; Pseudogenes in humans: FKBP1AP1; FKBP1AP2; FKBP1AP3; FKBP1AP4;

FKBP

EF hand

Protein helix–loop–helix motif

EFCBP2; EFHA1; EFHA2; EFHB; EFHC1; EFHD1; EFHD2; EPS15; EPS15L1 FKBP10; FKBP14; FKBP7; FKBP9; FKBP9L; FREQ; FSTL1; FSTL5 GCA; GPD2; GUCA1A; GUCA1B; GUCA1C

EF hand

EF_hand

List of human protein-coding genes 3

O95302 5714 FKBP10 HGNC:18169; Q96AY3 5715 FKBP11 HGNC:18624; Q9NYL4 5716 FKBP14 HGNC:18625; Q9NWM8 5717 FKBP15 HGNC:23397; Q5T1M5 5718 FKBPL HGNC:13949;

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3

Mega2, the Manipulation Environment for Genetic Analysis

Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C (2012). "Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis

Mega2, the Manipulation Environment for Genetic Analysis

Mega2,_the_Manipulation_Environment_for_Genetic_Analysis