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homeobox protein SIX1; sine oculis homeobox homolog 1 (SIX1)
Function:
- may be involved in limb tendon & ligament development
Structure:
- belongs to the SIX/sine oculis homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus
Expression:
- specifically expressed in skeletal muscle
Pathology:
- defects in SIX1 are the cause of
a) deafness autosomal dominant type 23
b) branchiootic syndrome type 3
- defects in SIX1 could be a cause of branchiootorenal syndrome
General
homeobox protein SIX; sine oculis homeobox homolog (SIX)
nuclear protein
Properties
SIZE: entity length = 284 aa
MW = 32 kD
COMPARTMENT: cell nucleus
MOTIF: homeodomain
SITE: 124-183
Database Correlations
OMIM correlations
MORBIDMAP 601205
UniProt Q15475
Pfam PF00046
Entrez Gene 6495
Kegg hsa:6495
References
- UniProt :accession Q15475
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/SIX1ID42302ch14q23.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SIX1