MAMDC4

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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Changes in the MAMDC4 gene were identified in a UDN participant with behavioral disorders, congenital heart defects, and a brain malformation.

Date of Report

Jun 05, 2023

Full Name

Mam Domain-Containg Protein 4

Location

Chromosome 9 (9q34.3)

Function

The MAMDC4 gene encodes a component of the apical endosomal compartment that is believed to be involved in sorting and selective transport of receptors and ligands (Speelman et al., 1995).

Database Links

GeneCards: IL1RL2

NCBI Gene: 158056

OMIM: 617208

UniProtKB/Swiss-Prot: Q6UXC1

Clinical Significance

Compound heterozygous 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 MAMDC4

Inheritance Pattern Unknown

Position (hg19) chr9:g.139749919_ 139749925del & g.139754453C>G

Transcript NM_206920.3

DNA Change c.1319_1325del & c.3309C>G

Protein Change p.Arg440GlnfsTer101 & p.Ser1103Arg

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