KT33B Polyclonal Antibody, 50ul Cell Culture & Maintenance Mutations in this gene have

Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH)

Mutations in this gene are associated with platelet-type bleeding disorders| which are characterized by a failure of platelet aggregation| including Glanzmann thrombasthenia

which contains a conserved region of 84 amino acids called SCAN (SRE-ZBP

The protein encoded by this gene is a hydrophilic| intracellular protein

Interacts with 14-3-3 family members in a phosphorylation-dependent manner

KT33B Polyclonal Antibody, 50ul Cell Culture & Maintenance Mutations in this gene haveThis gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12 q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B.