SEMA4C

Description

The SEMA4C (semaphorin 4C) is a protein-coding gene located on chromosome 2.

Semaphorin-4C is a protein encoded by the SEMA4C gene in humans. It interacts with DLG4.

SEMA4C acts as a cell surface receptor for PLXNB2, playing a crucial role in cell-cell signaling. Binding of PLXNB2 triggers downstream activation of RHOA and phosphorylation of ERBB2 at tyrosine residue 1248. This protein is essential for normal brain development, axon guidance, and cell migration. Additionally, SEMA4C might serve as a signaling receptor involved in myogenic differentiation by activating the stress-activated MAPK cascade.

SEMA4C is also known as M-SEMA-F, SEMACL1, SEMAF, SEMAI.

Associated Diseases

• Griscelli syndrome type 3
• microcephaly-albinism-digital anomalies syndrome
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
• pili bifurcati
• uncombable hair syndrome
• oculocutaneous albinism type 3
• breast cancer
• Tietz syndrome