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

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

rs1555939415 in POLR2F;SOX10 gene and WAARDENBURG SYNDROME, TYPE IIA PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.

rs750566714 in POLR2F;SOX10 gene and WAARDENBURG SYNDROME, TYPE IIE PMID 10441344 1999 A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

PMID 17999358 2007 Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

rs121909117 in POLR2F;SOX10 gene and Waardenburg Syndrome, Type 4c PMID 18348274 2008 A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PMID 9462749 1998 SOX10 mutations in patients with Waardenburg-Hirschsprung disease.