CASKIN1
Description
The CASKIN1 (CASK interacting protein 1) is a protein-coding gene located on chromosome 16.
CASKIN1 plays a role in connecting the scaffolding protein CASK to other proteins within the cell, influencing cellular processes.
CASKIN1 is also known as ANKS5A.
Associated Diseases
- behavioral variant of frontotemporal dementia
- childhood disintegrative disorder
- uncombable hair syndrome
- N-acetylaspartate deficiency
- 15q11q13 microduplication syndrome
- amyotrophic lateral sclerosis
- frontotemporal dementia
- Griscelli syndrome type 3
- juvenile Huntington disease
- Clouston syndrome
- early-onset autosomal dominant Alzheimer disease
