FOXD3

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Forkhead box D3
PDB 2hfh EBI.jpg
PDB rendering based on 2hfh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols FOXD3 ; AIS1; Genesis; HFH2; VAMAS2
External IDs OMIM611539 MGI1347473 HomoloGene49239 GeneCards: FOXD3 Gene
Orthologs
Species Human Mouse
Entrez 27022 15221
Ensembl ENSG00000187140 ENSMUSG00000067261
UniProt Q9UJU5 Q61060
RefSeq (mRNA) NM_012183 NM_010425
RefSeq (protein) NP_036315 NP_034555
Location (UCSC) Chr 1:
63.79 – 63.79 Mb
Chr 4:
99.66 – 99.66 Mb
PubMed search [1] [2]

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]