Gain of Function Flashcards
Hemoglobin Kempsey
Asp99Asn missense mutation
Asp99Asn missense mutation
Hemoglobin Kempsey
Hemoglobin Kempsey - Symptoms
hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia
hemoglobin molecule which has higher than normal oxygen affinity, and is less able to unload oxygen in the tissues, polycythemia
Hemoglobin Kempsey - Symptoms
Achodroplasia
FGFR3 (fibroblast growth factor receptor 3)
FGFR3 (fibroblast growth factor receptor 3)
Achodroplasia
Achodroplasia - symptoms
Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing
Skeletal dysplasia, Rhizomelic limb shortening, small stature, trident hands, short fingers, large head/frontal bossing
Achodroplasia - symptoms
Charcot-Marie-Tooth disease
duplication of PMP22 gene, leading to elevated PMP22 protein
duplication of PMP22 gene
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease - Symptoms
lower extremities with weakness and muscle atrophy and mild sensory loss
lower extremities with weakness and muscle atrophy and mild sensory loss
Charcot-Marie-Tooth disease - Symptoms
Alzheimer’s in Trisomy 21
3 total copies of the APP (21q21) leading to increased production of APP protein