FOXD3

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FOXD3
PDB 2hfh EBI.jpg
Identifiers
Aliases FOXD3, AIS1, Genesis, HFH2, VAMAS2, forkhead box D3
External IDs MGI: 1347473 HomoloGene: 49239 GeneCards: 27022
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012183

NM_010425

RefSeq (protein)

NP_036315.1

NP_034555.3

Location (UCSC) Chr 1: 63.32 – 63.33 Mb Chr 4: 99.66 – 99.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Forkhead box D3 also known as FOXD3 is a forkhead protein that in humans is encoded by the FOXD3 gene.[1]

Function[edit]

This gene belongs to the forkhead protein family of transcription factors which is characterized by a DNA-binding forkhead domain. FoxD3 functions as a transcriptional repressor and contains the C-terminal engrailed homology-1 motif (eh1), which provides an interactive surface with a transcriptional co-repressor Grg4 (Groucho-related gene-4).[2]

Clinical significance[edit]

Mutations in this gene cause vitiligo.[3]

References[edit]

  1. ^ Hromas R, Moore J, Johnston T, Socha C, Klemsz M (June 1993). "Drosophila forkhead homologues are expressed in a lineage-restricted manner in human hematopoietic cells". Blood 81 (11): 2854–9. PMID 8499623. 
  2. ^ Yaklichkin S, Steiner AB, Lu Q, Kessler DS (2007). "FoxD3 and Grg4 physically interact to repress transcription and induce mesoderm in Xenopus.". J Biol Chem 282 (4): 2548–5. doi:10.1074/jbc.M607412200. PMC 1780074. PMID 17138566. 
  3. ^ Alkhateeb A, Fain PR, Spritz RA (August 2005). "Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo". J. Invest. Dermatol. 125 (2): 388–91. doi:10.1111/j.0022-202X.2005.23822.x. PMID 16098053. 

Further reading[edit]