ANKRD44

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a female, age 3, with facial differences, heart abnormalities (hypoplastic left heart syndrome, mitral regurgitation, aortic insufficiency), kidney abnormalities (vesicoureteral reflux, hydronephrosis, medullary nephrocalcinosis), and global developmental delay (read full description).

Date of Report

Oct 28, 2019

Full Name

ankyrin repeat domain 44

Location

Chromosome 2 (2q33.1)

Function

ANKRD44 codes for an ankyrin repeat protein, which is a subunit of the protein phosphatase 6 (PP6). PP6 plays a role in the cell cycle, DNA damage repair, inflammatory signaling and lymphocyte development (Stefansson et al., 2008; Ohama, 2019).

Database Links

GeneCards: ANKRD44

NCBI Gene: 91526

UniProtKB/Swiss-Prot: Q8N8A2

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene ANKRD44

Inheritance Pattern Unknown

Position (hg19) chr2:g.197866532C>T

Transcript NM_001195144.1

DNA Change c.2380C>T

Protein Change p.Gln794Ter

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