NUBPL

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.

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A change in the NUBPL gene was identified in a female, age 18 with difficulty walking (gait ataxia), trembling during precise movement (intention tremor), and learning disabilities (read full description).

Date of Report

Aug 19, 2021

Full Name

nucleotide binding protein like

Location

Chromosome 14 (14q12)

Function

The NUBPL gene encodes for an Fe/S protein which is involved in the assembly of respiratory complex I by aiding in the transfer of Fe/S into the complex I subunits (Sheftel et al., 2009).

Database Links

GeneCards: NUBPL

NCBI Gene: 80224

OMIM: 613621

UniProtKB/Swiss-Prot: Q8TB37

Clinical Significance

Changes in this gene were identified in a UDN participant.

Gene NUBPL

Inheritance Pattern Unknown

Position (hg19) chr14:g.32031331G>A & g.32068516G>T & g.32319298T>C

Transcript NM_025152.2

DNA Change c.166G>A & c.313G>T & c.815-27T>C

Protein Change p.Gly56Arg & p.Asp105Tyr & N/A

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