TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

Basic information

Region (hg38): X:154411524-154421726

Previous symbols: [ "CMD3A", "EFE2", "EFE", "TAZ" ]

Links

ENSG00000102125

∙ NCBI:6901 ∙ OMIM:300394 ∙ HGNC:11577 ∙ Uniprot:Q16635 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Barth syndrome (Definitive), mode of inheritance: XL
Barth syndrome (Strong), mode of inheritance: XL
Barth syndrome (Definitive), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Barth syndrome (3-Methylglutaconic aciduria, type II)	XL	Allergy/Immunology/Infectious; Cardiovascular	Surveillance for cardiomyopathy and early medical treatment may reduce morbidity; in some individuals, early cardiac transplant may be necessary; Individuals can also have neutropenia, and prophylaxis against infections, with early and aggressive management of infections may be beneficial	Allergy/Immunology/Infectious; Biochemical; Cardiovascular; Craniofacial; Musculoskeletal; Neurologic	6142097; 2372897; 1998334; 1719174; 8434619; 8487269; 7616547; 8630491; 9332651; 9382097; 9382096; 9345098; 11238270; 11735032; 12468278; 12032589; 15098233; 7394203; 19648820; 20301486; 20812380; 22410210; 21987083

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAFAZZIN gene.

3-Methylglutaconic_aciduria_type_2 (449 variants)
not_provided (94 variants)
Cardiovascular_phenotype (81 variants)
not_specified (35 variants)
Primary_dilated_cardiomyopathy (17 variants)
Endocardial_fibroelastosis (12 variants)
TAFAZZIN-related_disorder (10 variants)
Left_ventricular_noncompaction_cardiomyopathy (8 variants)
Cardiomyopathy (7 variants)
Dilated_cardiomyopathy_1A (1 variants)
Left_ventricular_noncompaction (1 variants)
Primary_familial_hypertrophic_cardiomyopathy (1 variants)
Caused_by_mutation_in_the_tafazzin_gene (1 variants)
Primary_familial_dilated_cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAFAZZIN gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000116.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous		1 clinvar	6 clinvar	109 clinvar		116
missense	5 clinvar	27 clinvar	139 clinvar	7 clinvar		178
nonsense	12 clinvar	11 clinvar	2 clinvar			25
start loss			2			2
frameshift	19 clinvar	11 clinvar	5 clinvar			35
splice donor/acceptor (+/-2bp)	9 clinvar	14 clinvar	2 clinvar			25
Total	45	64	156	116	0

Highest pathogenic variant AF is 0.00000457055

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAFAZZIN	protein_coding	protein_coding	ENST00000299328	11	10212

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.726	0.274	120450	0	1	120451	0.00000415

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.21	54	123	0.439	0.0000100	1924
Missense in Polyphen		7	38.842	0.18022		544
Synonymous	0.929	40	48.2	0.830	0.00000389	536
Loss of Function	2.82	2	13.0	0.154	8.98e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000784	0.0000644
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Some isoforms may be involved in cardiolipin (CL) metabolism. {ECO:0000269|PubMed:12930833, ECO:0000269|PubMed:19164547}.;
Disease: DISEASE: Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. {ECO:0000269|PubMed:11238270, ECO:0000269|PubMed:12032589, ECO:0000269|PubMed:9382096, ECO:0000269|PubMed:9382097}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Glycerophospholipid metabolism - Homo sapiens (human);Metabolism of lipids;Metabolism of proteins;Metabolism;Acyl chain remodeling of CL;Glycerophospholipid biosynthesis;Phospholipid metabolism;Mitochondrial protein import (Consensus)

Recessive Scores

pRec: 0.193

Intolerance Scores

loftool: 0.0874
rvis_EVS: 0.08
rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

pHI: 0.290
hipred: Y
hipred_score: 0.662
ghis: 0.507

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.897

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Taz
Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype; cellular phenotype;

Zebrafish Information Network

Gene name: taz
Affected structure: post-vent region
Phenotype tag: abnormal
Phenotype quality: increased curvature

Gene ontology

Biological process: muscle contraction;inner mitochondrial membrane organization;heart development;skeletal muscle tissue development;regulation of gene expression;hemopoiesis;cardiolipin biosynthetic process;mitochondrial respiratory chain complex I assembly;cardiolipin acyl-chain remodeling;cristae formation;mitochondrial ATP synthesis coupled electron transport;cardiac muscle tissue development;cardiac muscle contraction;positive regulation of cardiolipin metabolic process;positive regulation of ATP biosynthetic process
Cellular component: nucleus;mitochondrion;mitochondrial inner membrane;cytosol;integral component of membrane
Molecular function: 1-acylglycerol-3-phosphate O-acyltransferase activity;O-acyltransferase activity;1-acylglycerophosphocholine O-acyltransferase activity