rs886060071

This variant is located in the ANKH gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Craniometaphyseal dysplasia, autosomal dominant; Chondrocalcinosis 2

About ANKH

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

View all ANKH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…