Gene: SOX10
Alternate names for this Gene: DOM|PCWH|WS2E|WS4|WS4C
Gene Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: SRY-box transcription factor 10
Type of Gene: protein-coding
Gene: POLR2F
Alternate names for this Gene: HRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15
Gene Summary: This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: RNA polymerase II, I and III subunit F
Type of Gene: protein-coding