Glyceronephosphate O-Acyltransferase

Alternative Names

GNPAT
Dihydroxyacetonephosphate Acyltransferase
DHAPAT
DAPAT
Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase

Length

36,764 bases

No. of Exons

No. of isoforms

Protein Name

Dihydroxyacetone phosphate acyltransferase

Molecular Mass

77188 Da

Amino Acid Count

680

Genomic Location

chr1:231,241,209-231,277,972

Gene Map Locus

1q42.2

Description

Dihydroxyacetonephosphate acyltransferase (DHAPAT, or DAPAT; EC 2.3.1.42), a key enzyme in the biosynthesis of ether phospholipids, is localized exclusively within peroxisomes. DHAPAT and alkyl-DHAP synthase are responsible for the first two steps of plasmalogen biosynthesis. As the etherphospholipid plasmalogens are major constituents of myelin phospholipids, defective development of myelin is expected in individuals with deficiencies of these enzymes.

Mutations in GNPAT are associated with rhizomelic chondrodysplasia punctata, type 2 (RCDP2).

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014236.4:c.487C>T	Saudi Arabia	NC_000001.11:g.231262771C>T		Pathogenic	Rhizomelic Chondrodysplasia Punctata, Type 2	NG_008240.2:g.26599C>T; NM_014236.4:c.487C>T; NP_055051.1:p.Arg163Ter	781300183
NM_014236.4:c.569-3T>G	Saudi Arabia	NC_000001.11:g.231265290T>G	Pathogenic	Uncertain Significance	Rhizomelic Chondrodysplasia Punctata, Type 2	NG_008240.2:g.29118T>G; NM_014236.4:c.569-3T>G; NP_055051.1:p.?	745869264	1252036

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Other Reports

Yemen

Sztriha et al. (2000) reported a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency. DHAPAT complementary DNA was analyzed and a homozygous G-A mutation was found at position 632, resulting in the substitution of the arginine residue in the protein at position 211 by a histidine (R211H).

External Links

http://www.orpha.net/static/GB/chondrodysplasia_punctata.html https://medlineplus.gov/genetics/gene/gnpat/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=gnpat

Contributors

Asha Deepthi: 05.12.2021
Tasneem Obeid: 10.05.2011
Ghazi O. Tadmouri: 22.05.2005

Edit History

Sayeeda Hana: 01.07.2022
Asha Deepthi: 05.12.2021
Pratibha Nair: 12.05.2011
Pratibha Nair: 14.06.2006
Sarah Al-Haj Ali: 07.06.2005

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