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Single-pass membrane protein with coiled-coil domains 1 (SMCO1)

Target: SMCO1
Molecular classification: Other (single-pass membrane protein, unclassified family; not a receptor, enzyme, transporter, channel, or transcription factor)

Overview

Single-pass membrane protein with coiled-coil domains 1 (SMCO1, also known as C3orf43) is a membrane protein predicted to be localized to the plasma membrane, containing a conserved but uncharacterized coiled-coil domain (DUF4547)[2][4][5]. It is highly expressed in cardiac and skeletal muscle, where it is implicated in maintaining normal myocyte structure and function, and is also upregulated in proliferating hepatocytes during liver regeneration[1][2]. Disruption of Smco1 in animal models results in myopathy, cardiac hypoplasia, and growth defects[1]. The precise molecular function and complete disease associations remain to be fully elucidated, and there are no currently known drugs, biomarkers, or defined safety concerns associated directly with SMCO1[1][2][4][5].

Other names: C3orf43FLJ41923DKFZp313B0440Single-pass membrane and coiled-coil domain-containing protein 1SMCO1_HUMAN

Biological functions

Muscle structure and function maintenancePositive regulation of cell proliferation (especially hepatocyte proliferation and possibly muscle cell growth)

Disease associations

Chromosome 3q29 microdeletion syndromeSubvalvular aortic stenosis(Possibly) cardiac and skeletal muscle disorders resulting from loss of function

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