ACTN1 gene

actinin alpha 1

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

From NCBI Gene:

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

From NCBI Gene:

  • Platelet-type bleeding disorder 15

From UniProt:

Bleeding disorder, platelet-type 15 (BDPLT15): An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. [MIM:615193]

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24

Molecular Location: base pairs 68,874,123 to 68,979,366 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24, which is the long (q) arm of chromosome 14 at position 24
  • BDPLT15