Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MATEGMILT NHDHQIRVGV LTVSDSCFRN LAEDRSGINL KDLVQDPSLL GGTISAYKIV PDEIEEIKET LIDWCDEKEL NLILTTGGTG FAPRDVTPEA TKEVIEREAP GMALAMLMGS LNVTPLGMLS RPVCGIRGKT LIINLPGSKK GSQECFQFIL PALPHAIDLL RDAIVKVKEV HDELEDLPSP PPPLSPPPTT SPHKQTEDKG VQCEEEEEEK KDSGVASTED SSSSHITAAA IAAKKHPFYT SPAVVMAHGE QPIPGLINYS HHSTDERIPD SIISRGVQVL PRDTASLSTT PSESPRAQAT SRLSTA (1-315 aa encoded by B C030016)
Gephyrin is a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.
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