BEAN1 Rabbit Polyclonal Antibody, 50ul sgRNA customized design loss of function mutations in

loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss

N-terminal part of this PTP contains two tandem Src homolog (SH2) domains| which act as protein phospho-tyrosine binding domains| and mediate the interaction of this PTP with its substrates

is deleted in Williams-Beuren syndrome

May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules

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BEAN1 Rabbit Polyclonal Antibody, 50ul sgRNA customized design loss of function mutations in100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.