ANKZF1

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 the ANKZF1 gene was identified in a UDN participant with decline in language and memory (cognitive regression), sudden muscle jerks (myoclonus), and increased muscle tone in lower limbs (limb hypertonia)

Date of Report

Mar 20, 2023

Full Name

ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1

Location

Chromosome 2 (2q35)

Function

ANKZF1 gene plays a role in the cellular response to hydrogen peroxide and in the maintenance of mitochondrial integrity under cellular stress (Haaften-Visser et al., 2017).

Database Links

GeneCards: ANKZF1

NCBI Gene: 55139

OMIM: 617541

UniProtKB/Swiss-Prot: Q9H8Y5

Clinical Significance

A homozygous 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 ANKZF1

Inheritance Pattern Unknown

Position (hg19) chr2:g.220096753_ 220096755del

Transcript NM_018089.3

DNA Change c.252_254del

Protein Change p.His84del

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