ITM2C
Description
The ITM2C (integral membrane protein 2C) is a protein-coding gene located on chromosome 2.
Integral membrane protein 2C is a protein that in humans is encoded by the ITM2C gene.
ITM2C acts as a negative regulator of amyloid-beta peptide production. It potentially inhibits the processing of amyloid precursor protein (APP) by blocking its access to alpha- and beta-secretase. However, its interaction with the beta-secretase-cleaved APP C-terminal fragment is minimal, indicating that it may not effectively inhibit gamma-secretase cleavage. ITM2C may also be involved in TNF-induced cell death and neuronal differentiation.
ITM2C is also known as BRI3, BRICD2C, E25, E25C, ITM3.
Associated Diseases
- Gollop-Wolfgang complex
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- acheiropody
- syndactyly type 4
- acromesomelic dysplasia 2C, Hunter-Thompson type
- laurin-Sandrow syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- fibular aplasia-ectrodactyly syndrome
- acromesomelic dysplasia 2A
- tibial hemimelia
- acromesomelic dysplasia 2B
- mesomelic dysplasia, Savarirayan type
