FK506-Binding Protein 14

Alternative Names

  • FKBP14
Back to search Result
OMIM Number

614505

NCBI Gene ID

55033

Uniprot ID

Q9NWM8

Length

20,780 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Peptidyl-prolyl cis-trans isomerase FKBP14

Molecular Mass

24172 Da

Amino Acid Count

211

Genomic Location

chr7:30,005,923-30,026,702

Gene Map Locus
7p14.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017946.4:c.197+5_197+8delSaudi ArabiaNC_000007.14:g.30026304TTAC[1]Likely Pathogenic, PathogenicLikely PathogenicEhlers-Danlos Syndrome, Kyphoscoliotic Type, 2NG_032173.1:g.5491GTAA[1]; NM_017946.4:c.197+5_197+8del; NP_060416.1:p.?747353360161456
© CAGS 2024. All rights reserved.