KALRN gene

kalirin, RhoGEF kinase

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

From NCBI Gene:

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

From UniProt:

Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity.

From NCBI Gene:

  • Coronary heart disease 5

From UniProt:

Coronary heart disease 5 (CHDS5): A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. [MIM:608901]

Cytogenetic Location: 3q21.1-q21.2, which is the long (q) arm of chromosome 3 between positions 21.1 and 21.2

Molecular Location: base pairs 124,033,341 to 124,726,325 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q21.1-q21.2, which is the long (q) arm of chromosome 3 between positions 21.1 and 21.2
  • ARHGEF24
  • CHD5
  • CHDS5
  • DUET
  • DUO
  • HAPIP
  • TRAD