Results for "Episodic upper airway obstruction": 7 genes

Name

UCMA Gene

upper zone of growth plate and cartilage matrix associated

This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

EMWX Gene

episodic muscle weakness, X-linked

EKD2 Gene

Episodic kinesigenic dyskinesia 2

EA7 Gene

Episodic ataxia, type 7

EA8 Gene

Episodic ataxia, type 8

EA3 Gene

Episodic ataxia, type 3

CSE Gene

choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)