KAT6B - Histone acetyltransferase KAT6B - human protein (Medical)
 
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Protein
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KAT6B »  Histone acetyltransferase KAT6B   [ EC 2.3.1.48 ]
 
Protein also known as:  Monocytic leukemia zinc finger protein-related factor.
Gene name:  KAT6B
Family name: MYST (SAS/MOZ)
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 48 3
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP.  
  • CuratedUniProtKB
Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]: A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Genitopatellar syndrome (GTPTS) [MIM:606170]: A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Blepharophimosis-intellectual deficit syndrome, SBBYS type  3047  
Genitopatellar syndrome  85201  
Noonan syndrome  648  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 23522
MIM: 606170
MIM: 603736
PharmGKB: PA134880712
Polymorphism databases
DMDM: 143811424
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.