Neurofibromin Polyclonal Antibody, 50ul Glassware Sets Early growth response 1 encoded

Early growth response 1 encoded by EGR1 belongs to the EGR family of C2H2-type zinc-finger proteins

The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain

The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity

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autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13)

Neurofibromin Polyclonal Antibody, 50ul Glassware Sets Early growth response 1 encodedNF1 product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA >Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.