FA2H

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.

Changes in this gene were identified in a female, age 8, with hereditary spastic paraplegia type 35 (read full description).

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: FA2H

MedlinePlus Genetics: FA2H

NCBI Gene: 79152

OMIM: 611026

UniProtKB/Swiss-Prot: Q7L5A8

Clinical Significance

A change in this gene was identified in a UDN participant and her brother:

Gene FA2H

Inheritance Pattern Autosomal recessive

Position (hg19) chr16:g.74808521C>A

Transcript NM_024306.4

DNA Change c.133G>T

Protein Change p.Gly45Trp

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