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GPR64 Polyclonal Antibody, 20ul In vitro Assessment Bethlem myopathy

SKU: 25193314384

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GPR64 Polyclonal Antibody, 20ul In vitro Assessment Bethlem myopathyThis gene encodes a member of the G protein coupled receptor family described as an epididymis specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene.

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Description

Bethlem myopathy

May be involved in modulation of the function of inositol and phosphatidylinositol polyphosphate-binding proteins that are present at membranes ruffles

Mutations in MBTPS2 have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome)

as well as in maintenance of proper cell function in adults

suggesting it likely has an important biological role

GPR64 Polyclonal Antibody, 20ul In vitro Assessment Bethlem myopathyThis gene encodes a member of the G protein coupled receptor family described as an epididymis specific transmembrane protein. The encoded protein may be proteolytically processed as it contains a motif shown to be a protein scission motif in some members of this family (PMID: 11973329). Multiple transcript variants encoding different isoforms have been found for this gene.

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