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sry-box-10 protein; transcription factor SOX-10 (sox10)
Function:
- transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP
- may confer cell specificity to the function of other transcription factors in developing & mature glia (putative)
Structure: contains 1 HMG box DNA-binding domain
Compartment: cytoplasm, nucleus
Expression:
- expressed in fetal brain & in adult brain, heart, small intestine & colon
Pathology:
- defects in SOX10 are the cause of
a) Waardenburg syndrome type 2E
b) Waardenburg syndrome type 4
- includes PCWH (neurologic variant)
c) Yemenite deaf-blind hypopigmentation syndrome
Related
SOX10 Ag in tissue
General
sex-determining region Y box protein; sry-box protein; sox protein (SOX)
Properties
SIZE: entity length = 466 aa
MW = 50 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: glycine-rich region {35-41}
HMG box
SITE: 104-172
MOTIF: nuclear export signal {134-145}
Database Correlations
OMIM correlations
MORBIDMAP 602229
UniProt P56693
Pfam PF00505
Entrez Gene 6663
Kegg hsa:6663
References
UniProt :accession P56693