ENKD1
Description
The ENKD1 (enkurin domain containing 1) is a protein-coding gene located on chromosome 16.
Enkurin domain-containing protein 1 is a protein that in humans is encoded by the ENKD1 gene.
Enkurin domain-containing protein 1 (ENKD1) regulates microtubule organization and stability, promoting astral microtubule stability and proper mitotic spindle orientation. It facilitates the oriented division of basal keratinocytes, contributing to epidermal stratification. ENKD1 is essential for the assembly of primary and motile cilia. It destabilizes the CCP110-CEP97 interaction by competing with CEP97 for CCP110 binding, leading to CCP110 and CEP97 removal from the mother centriole and initiation of ciliogenesis.
ENKD1 is also known as C16orf48, DAKV6410, FBB11.
Associated Diseases
- Stargardt disease
- spermatogenic failure 51
- spermatogenic failure 65
- dilated cardiomyopathy 1I
- familial sick sinus syndrome
- spermatogenic failure 72
- Brugada syndrome
- hypertrophic cardiomyopathy 6
- pancreatic ductal adenocarcinoma
