SPTs
Ankyrins (ANKs) and spectrins (SPTs) were first discovered as binding partners in the membrane skeleton of human erythrocytes.
Mutations in genes encoding these proteins cause hereditary spherocytosis.
Ankyrin and spectrin are required for organization of a surprisingly diverse set of proteins, including ion channels and cell adhesion molecules that are localized in specialized membrane domains in many cell types.
These proteins actively participate in assembly of specialized membrane domains in addition to their conventional maintenance role as scaffolding proteins.
Recently described inherited human diseases due to defects in spectrin or ankyrin include spinocerebellar ataxia type 5 and a cardiac arrhythmia, termed sick sinus syndrome with bradycardia or ankyrin-B syndrome.
Members
| SPTAs | SPTBs |
Pathology
beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5)
References
Bennett V, Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med. 2007 Dec 13; PMID: #18083066#