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Template:Deficiencies of intracellular signaling peptides and proteins

From WikiMD's medical encyclopedia

Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
  • Watson syndrome
  • Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
  • Aarskog–Scott syndrome
  • Juvenile primary lateral sclerosis
  • X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
  • Progressive osseous heteroplasia
  • Pseudohypoparathyroidism
  • Albright's hereditary osteodystrophy
  • McCune–Albright syndrome
  • CGL 2
Monomeric
* RAS: HRAS
    • Costello syndrome
  • KRAS
    • Noonan syndrome 3
    • KRAS Cardiofaciocutaneous syndrome
  • RAB: RAB7
    • Charcot–Marie–Tooth disease
  • RAB23
    • Carpenter syndrome
  • RAB27
    • Griscelli syndrome type 2
  • RHO: RAC2
    • Neutrophil immunodeficiency syndrome
  • ARF: SAR1B
    • Chylomicron retention disease
  • ARL13B
    • Joubert syndrome 8
  • ARL6
    • Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
See also intracellular signaling peptides and proteins


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