ANK3 gene

ankyrin 3

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

From NCBI Gene:

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

From UniProt:

In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).

Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

From NCBI Gene:

  • Mental retardation, autosomal recessive 37

From UniProt:

Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility.

Mental retardation, autosomal recessive 37 (MRT37): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. [MIM:615493]

Cytogenetic Location: 10q21, which is the long (q) arm of chromosome 10 at position 21

Molecular Location: base pairs 60,026,298 to 60,733,526 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q21, which is the long (q) arm of chromosome 10 at position 21
  • ANKYRIN-G
  • MRT37