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FLASH GENE
Symbol TTC21B contributors: mct - updated : 31-05-2019
HGNC name tetratricopeptide repeat domain 21B
HGNC id 25660
ASSOCIATED DISORDERS
corresponding disease(s) ATD4 , NPHP12
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • ciliary defects seen in the Ttc21b murine mutant extend to the embryonic brain, adding forebrain development to the spectrum of tissues affected by defects in ciliary physiology
  • in mouse Thm1-mutant ciliary defect diminishes sensitivity to feeding signals, which alters appetite regulation and leads to hyperphagia, obesity and metabolic disease