GPAT4

Chr 8

glycerol-3-phosphate acyltransferase 4

Also known as: 1-AGPAT 6, AGPAT6, LPAAT-zeta, LPAATZ, TSARG7

NCBI Gene: 137964 ENSG00000158669 UniProt: Q86UL3 OMIM: 608143

Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GPAT4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 330

398 rare PASS variants

Rare truncating (LoF)

1 in 8,500

36 rare PASS variants

Rare synonymous (reference)

1 in 230

216 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GPAT4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 470	1 in 9,100
South Asian	~43k	1 in 310	1 in 8,600
Remaining (unassigned)	~30k	1 in 180	≈ 1 in 15,000
European (Finnish)	~27k	1 in 680	1 in 4,400
Admixed American	~22k	1 in 190	≈ 1 in 4,500
African / African American	~21k	1 in 220	none seen
East Asian	~20k	1 in 510	1 in 2,600
Ashkenazi Jewish	~13k	1 in 200	none seen
Middle Eastern	~2,884	1 in 350	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 12 coding exons well covered in gnomAD exomes and genomes.? see exons ↓