Family

Progressive ankylosis (IPR009887)

Short name: ANKH

Overlapping homologous superfamilies

None.

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.
PANTHER
Pfam