Symbol
| TTC21B
| contributors: mct - updated : 31-05-2019
|
HGNC name
| tetratricopeptide repeat domain 21B
|
HGNC id
| 25660
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
| | | |
| 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 |