FANCA

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

FA Complementation Group A

Location

Chromosome 16 (16q24.3)

Function

Encodes a protein found in a multiprotein core complex that activates monoubiquitination of the FANCD2 protein Soulier et al. (2005).

Database Links

GeneCards: FANCA

MedlinePlus Genetics: FANCA

NCBI Gene: 2175

OMIM: 607139

UniProtKB/Swiss-Prot: O15360

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 FANCA

Inheritance Pattern Autosomal Recessive

Position (hg19) chr16:g.89862376G>A

Transcript NM_000135.3

DNA Change c.944C>T

Protein Change p.Pro315Leu

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