FA2H

On this page, you will find information about genetic changes that were identified in a UDN participant. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here

Date of Report

May 31, 2018

Full Name

fatty acid 2-hydroxylase

Location
Chromosome 16 (16q23.1)


Function

The FA2H gene codes for an enzyme responsible for fatty acid modification (Alderson et al., 2004).

Database Links

GeneCards: GC16M074746

Genetics Home Reference: FA2H

NCBI Gene: 79152

OMIM: 611026

UniProtKB/Swiss-Prot: Q7L5A8

Clinical Significance

The following changes in this gene were identified in a UDN participant and her brother:

Gene FA2H
Inheritance Pattern Autosomal recessive
Position Chr16:74808521
Transcript NM_024306
DNA Change c.133G>T
Protein Change p.G45W
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