NEXN gene

nexilin F-actin binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

From UniProt:

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Dilated cardiomyopathy 1CC
  • Familial hypertrophic cardiomyopathy 20

From UniProt:

Cardiomyopathy, familial hypertrophic 20 (CMH20): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. [MIM:613876]

Cardiomyopathy, dilated 1CC (CMD1CC): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [MIM:613122]

Cytogenetic Location: 1p31.1, which is the short (p) arm of chromosome 1 at position 31.1

Molecular Location: base pairs 77,888,515 to 77,946,329 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p31.1, which is the short (p) arm of chromosome 1 at position 31.1
  • CMH20
  • NELIN