Hamartin Polyclonal Antibody, 20ul Oligo Pool Defects in this gene are

Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia

Can also catalyze the oxidation of all-trans-retinol with NADP as co-factor

contains 145 million base pairs and comprises 4% of the human genome

which is defined by carrying a characteristic caspase-associated recruitment domain (CARD)

Hamartin Polyclonal Antibody, 20ul Oligo Pool Defects in this gene areTSC1 (tuberous sclerosis 1) encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in TSC1 have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.