LTBP4

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 a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

Latent Transforming Growth Factor Beta Binding Protein 4

Location

Chromosome 19 (19q13.2)

Function

LTBP4 gene encodes a protein that binds to transforming growth factor beta (TGFB) and is targeted to the extracellular matrix (Oklu and Hesketh, 2000).

Database Links

GeneCards: LTBP4

MedlinePlus Genetics: LTBP4

NCBI Gene: 8425

OMIM: 604710

UniProtKB/Swiss-Prot: Q8N2S1

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 LTBP4

Inheritance Pattern Autosomal Recessive

Position (hg19) chr19:g.41119932G>C

Transcript NM_001042544.1

DNA Change c.2869G>C

Protein Change p.Ala957Pro

Contact Us

Interested in learning more about this gene or sharing what you know? Contact us!