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Hypoparathyroidism-retardation-dysmorphism syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome (HRD, also known as Sanjad-Sakati syndrome) is a recessive, fatal disease associated with hypoparathyroidism, growth retardation, intellectual disabilities, facial dysmorphies, and seizures. HRD is associated with mutations in tubulin folding cofactor E (TBCE, also known as tubulin-specific chaperone E). TBCE mutations are also associated with a similar disease known as Kenny-Caffey syndrome. Fly stocks in the Bloomington collection that can be used to study HRD are listed here.

General information links for HRD:
NLM/NIH's Genetic and Rare Disease Information Center
NIH's Genetics Home Reference lonk for TBCE - includes links for GHR pages on FMR1
Relevant gene in stock Fly disease model or related mutation or transgene Stk # Comments
      Human tubulin folding cofactor E (TBCE)       Fly tubulin-specific chaperone E (tbce)
Tbce Tbce[Z0241] 34534 Amino acid change W45stop resuls in a truncated protein
Tbce Tbce[LH15] 34535 Deletion removing part of tbce and CG14591
Tbce P{UAS-tbce.RNAi.J}3 34537 Expresses dsRNA for RNAi of tbce under the control of UAS
Tbce P{TRiP.HMS02865}attP40 44569 Expresses dsRNA for RNAi of tbce (FBgn0033055) under UAS control.
Tbce P{UAS-tbce.J}3 34536 Expresses tbce under the control of UAS