Family

Progressive ankylosis (IPR009887)

Short name: ANKH

Family relationships

None.

Description

This family consists of several progressive ankylosis protein (ANK or ANKH) sequences. The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralisation and bone resorption [PMID: 11326272]. Mutations in ANK are thought to give rise to Craniometaphyseal dysplasia (CMD) which is a rare skeletal disorder characterised by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones [PMID: 11326338].

GO terms

Biological Process

GO:0035435 phosphate ion transmembrane transport

Molecular Function

GO:0015114 phosphate ion transmembrane transporter activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam