Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	132001
Gene name	TAM41 mitochondrial translocator assembly and maintenance homolog
Gene symbol	TAMM41
Synonyms (NCBI Gene)	C3orf31COXPD56RAM41TAM41
Chromosome	3
Chromosome location	3p25.2

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	IBA
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	IEA
GO:0004605	Function	Phosphatidate cytidylyltransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	27499296
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	38322995
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IBA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032049	Process	Cardiolipin biosynthetic process	IBA
GO:0032049	Process	Cardiolipin biosynthetic process	IEA
GO:0032049	Process	Cardiolipin biosynthetic process	ISS
GO:0032049	Process	Cardiolipin biosynthetic process	TAS	38322995

MIM	HGNC	e!Ensembl
614948	25187	ENSG00000144559

Q96BW9

Protein name

Phosphatidate cytidylyltransferase, mitochondrial (EC 2.7.7.41) (CDP-diacylglycerol synthase) (CDP-DAG synthase) (Mitochondrial translocator assembly and maintenance protein 41 homolog) (TAM41)

Protein function

Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09139	Tam41_Mmp37	13 → 325	Phosphatidate cytidylyltransferase, mitochondrial	Family

Sequence

MALQTLQSSWVTFRKILSHFPEELSLAFVYGSGVYRQAGPSSDQKNAMLDFVFTVDDPVA
WHSKNLKKNWSHYSFLKVLGPKIITSIQNNYGAGVYYNSLIMCNGRLIKYGVISTNVLIE
DLLNWNNLYIAGRLQKPVKIISVNEDVTLRSALDRNLKSAVTAAFLMLPESFSEEDLFIE
IAGLSYSGDFRMVVGEDKTKVLNIVKPNIAHFRELYGSILQENPQVVYKSQQGWLEIDKS
PEGQFTQLMTLPKTLQQQINHIMDPPGKNRDVEETLFQVAHDPDCGDVVRLGLSAIVRPS
SIRQSTKGIFTAGKSFGNPCVTYLLTEWLPHSWLQCKALYLLGACEMLSFDGHKLGYCSK
VQTGITAAEPGGRTMSDHWQCCWKLYCPSEFSETLPVCRVFPSYCFIYQSYRCIGLQKQQ
HLCSPSSSPSLRQLLPSVLVGYFCCYCHFSKW

Sequence length

452

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (6)
Acute myeloid leukemia	Pathogenic	rs934260435	RCV005931953	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral ptosis	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 56	Pathogenic	rs2125058823, rs768826552, rs775491404, rs934260435	RCV002463025 RCV002463026 RCV002461607 RCV002461608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysphagia	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastroesophageal reflux	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Respiratory failure	Pathogenic	rs2125058823, rs768826552	RCV001728173 RCV001728174	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
Abnormal facial shape	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankle flexion contracture	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGLUTITION DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mitochondrial disease	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypotonia	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proximal muscle weakness	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAMM41-related condition	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (6)
Alzheimer Disease	Alzheimer disease	Pubtator	34152079	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30824836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34152079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30824836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30824836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	9806839		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MIEF2	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	[]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","GWAS catalog (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)"]
CRLS1	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	[]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","GWAS catalog (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)"]
MRPL12	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	[]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","GWAS catalog (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)"]
C1QBP	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	[]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","GWAS catalog (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)"]
MRPS16	2	["Combined oxidative phosphorylation deficiency","Mitochondrial disease"]	[]	5	["ClinVar (Combined oxidative phosphorylation deficiency)","Disgenet (Combined oxidative phosphorylation deficiency)","GWAS catalog (Combined oxidative phosphorylation deficiency)","HPO (Combined oxidative phosphorylation deficiency)","ClinGen (Mitochondrial disease)"]

TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog)

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