AASS Polyclonal Antibody, 100ul Miscellaneous Mutations in RPS19 cause Diamond-Blackfan

Mutations in RPS19 cause Diamond-Blackfan anemia (DBA)

member 17) is a 304 amino acid protein containing a J domain and a RRM (RNA recognition motif) domain

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TNK2 encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs

A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin

AASS Polyclonal Antibody, 100ul Miscellaneous Mutations in RPS19 cause Diamond-BlackfanAASS encodes a bifunctional enzyme (aminoadipate semialdehyde synthase) that catalyzes the first two steps in the mammalian lysine degradation pathway. The N terminal and the C terminal portions of this enzyme contain lysine ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha aminoadipic semialdehyde. Mutations in AASS are associated with familial hyperlysinemia.