NKAIN4

Chr 20

sodium/potassium transporting ATPase interacting 4

Also known as: C20orf58, FAM77A, bA261N11.2

NCBI Gene: 128414 ENSG00000101198 UniProt: Q8IVV8 OMIM: 612873

The protein interacts with the beta subunit of Na,K-ATPase and is part of a family with similarity to Drosophila Nkain proteins. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain atrophy. The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.99

LOEUF

Multiple*

Mechanism· predicted