Family

Nance-Horan syndrome protein family (IPR024845)

Short name: NHS_fam

Family relationships

None.

Description

Nance-Horan syndrome is an X-linked disorder characterised by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation [PMID: 14564667]. The syndrome is caused by defects in the NHS gene [PMID: 15466011], which appears to play a key role in the regulation of eye, tooth, brain, and craniofacial development [PMID: 14564667]. However, the protein's exact function is unknown.

This entry represents the NHS protein family, which includes NHS protein and NHS-like proteins 1 and 2.

Contributing signatures

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