Nance-Horan syndrome protein (congenital cataracts & dental anomalies protein, NHS)

Function

• unknown
• role in regulation of eye, tooth, brain & craniofacial development

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• detected at low levels in all tissues

Pathology

• defects in NHS are the cause of Nance-Horan syndrome

More general terms

• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/300457
• OMIM: https://mirror.omim.org/entry/302350
• UniProt: http://www.uniprot.org/uniprot/Q6T4R5.html