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

rs267607081 in SOX10;POLR2F gene and Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 10762540 2000 Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

PMID 19208381 2009 Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

rs1555937398 in SOX10;POLR2F gene and WAARDENBURG SYNDROME, TYPE IIA PMID 29407415 2018 Waardenburg syndrome: Novel mutations in a large Brazilian sample.

rs74315515 in SOX10;POLR2F 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 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

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