DNAJC10

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 UDN participant with global developmental delay, generalized low muscle tone, and recurrent respiratory infections (read full description).

Date of Report

Sep 20, 2022

Full Name

DNAJC10

Location

Chromosome 2 (2q32.1)

Function

DNAJC10 encodes for an endoplasmic reticulum co-chaperone that is associated with an endoplasmic reticulum-associated complex involved in recognizing and degrading misfolding proteins (Ushioda et al., 2008).

Database Links

GeneCards: DNAJC10

NCBI Gene: 54431

OMIM: 607987

UniProtKB/Swiss-Prot: Q81XB1

Clinical Significance

Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.

Gene DNAJC10

Inheritance Pattern Unknown

Position (hg19) chr2:g.183582920T>G & g.183623622G>T

Transcript NM_018981.4

DNA Change c.107T>G & c.1997+5G>T

Protein Change p.Phe36Cys & N/A

Contact Us

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