Target intelligence / Profile preview

Small integral membrane protein 23 (SMIM23)

Target
SMIM23
Molecular classification
Other (integral membrane protein of unknown specific class; not categorized as receptor, enzyme, transporter, ion channel, or transcription factor)
01

Overview

Small integral membrane protein 23 (SMIM23) is a protein-coding gene located on human chromosome 5 (gene symbol: SMIM23, previously C5orf50), encoding a protein with a predicted transmembrane domain[1][3][5][8]. The gene is composed of four exons and is expressed mainly in the testes, though expression data are limited[1][2]. Its structure consists of alpha-helical regions typical of membrane proteins, but its exact cellular localization (membrane versus cytosolic) is not fully resolved[1]. Some studies suggest it may play a role in the morphological development of facial features—particularly in people of European descent—and possibly in determining human height, though its precise cellular function remains unknown[1][2]. SMIM23 is not currently recognized as a therapeutic target, and there are no drugs known to interact with it[1][3][8]. It is evolutionarily conserved among mammals, and bioinformatics analyses indicate possible interactions with proteins involved in cellular structure and DNA repair, but there is no evidence for direct involvement in major signaling pathways or disease mechanisms[1].

Other names
C5orf50LOC644994CTB-78H18.1small integral membrane protein 23
02

Biological functions

Unknown, possible role in determination of facial morphology
03

Disease associations

Frontonasal dysplasia, cranioectodermal dysplasia (based on genetic association, not mechanistic evidence)

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