SGCE
Overview
SGCE (sarcoglycan epsilon) encodes a transmembrane component of the dystrophin-associated glycoprotein complex expressed in the nervous system, muscle, and neural-crest-derived tissues. In normal human skin, SGCE marks the LowMut (low somatic mutation burden) melanocyte subpopulation that is enriched in hair follicles and associated with a neural-crest-like gene-expression state.
Alterations observed in the corpus
- LowMut melanocyte subpopulation marker (neural-crest lineage): SGCE transcript expression characterizes the LowMut melanocyte subset in a normal human skin single-cell atlas — cells with fewer UV-attributable (SBS7) mutations and clock-like (SBS1/SBS5) dominant patterns. No somatic driver mutations in SGCE are reported. PMID:39975212
Cancer types (linked)
- MEL / SKIN: SGCE expression is part of the LowMut neural-crest-like melanocyte gene signature observed in non-lesional skin from a melanoma patient. Cross-study alignment places this state near the WIMMS “AXL/Neuronal/Invasive” and Belote et al. “MSC” melanocyte phenotypes. PMID:39975212
Co-occurrence and mutual exclusivity
Therapeutic relevance
- No direct therapeutic relevance reported in the current corpus.
Open questions
- The functional role of SGCE in LowMut melanocyte biology — whether it is mechanistically related to reduced UV mutational load or is merely a co-expressed neural-crest marker — is not established. PMID:39975212
Sources
This page was processed by crosslinker on 2026-04-30.