Property Summary

NCBI Gene PubMed Count 8
Grant Count 4
R01 Count 3
Funding $224,219.6
PubMed Score 7.04
PubTator Score 8.12

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6V0L0 Q5VXH6
Symbols FFDD4

Gene

Gene RIF (6)

PMID Text
23161670 Focal facial dermal dysplasia, type IV results from the loss of function mutations in CYP26C1.
21850183 CYP26A1 and CYP26C1 play a pivotal role in the pathogenesis of nonsyndromic bilateral and unilateral optic nerve aplasia.
19703508 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16933217 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
14532297 may play a specific role in catabolizing both all-trans and 9-cis isomers of retinoic acid.

AA Sequence

MFPWGLSCLSVLGAAGTALLCAGLLLSLAQHLWTLRWMLSRDRASTLPLPKGSMGWPFFGETLHWLVQGS      1 - 70
RFHSSRRERYGTVFKTHLLGRPVIRVSGAENVRTILLGEHRLVRSQWPQSAHILLGSHTLLGAVGEPHRR     71 - 140
RRKVLARVFSRAALERYVPRLQGALRHEVRSWCAAGGPVSVYDASKALTFRMAARILLGLRLDEAQCATL    141 - 210
ARTFEQLVENLFSLPLDVPFSGLRKGIRARDQLHRHLEGAISEKLHEDKAAEPGDALDLIIHSARELGHE    211 - 280
PSMQELKESAVELLFAAFFTTASASTSLVLLLLQHPAAIAKIREELVAQGLGRACGCAPGAAGGSEGPPP    281 - 350
DCGCEPDLSLAALGRLRYVDCVVKEVLRLLPPVSGGYRTALRTFELDGYQIPKGWSVMYSIRDTHETAAV    351 - 420
YRSPPEGFDPERFGAAREDSRGASSRFHYIPFGGGARSCLGQELAQAVLQLLAVELVRTARWELATPAFP    421 - 490
AMQTVPIVHPVDGLRLFFHPLTPSVAGNGLCL                                          491 - 522
//

Text Mined References (8)

PMID Year Title
23161670 2013 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
21850183 2011 Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.
19703508 2009 Positive association between ALDH1A2 and schizophrenia in the Chinese population.
16933217 2006 Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
14532297 2004 A novel human cytochrome P450, CYP26C1, involved in metabolism of 9-cis and all-trans isomers of retinoic acid.