LDAH - lipid droplet associated hydrolase Gene

Homo sapiens

Also known as hLDAH; C2orf43

Gene ID: 60526 | Gene type: protein coding

About LDAH

Cytogenetic location: 2p24.1 Genomic coordinates (GRCh38): 2:20,682,489-20,823,101 (from NCBI)

This gene has 13 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in adrenal (RPKM 4.0), urinary bladder (RPKM 3.6) and 25 other tissues.

Summary

Predicted to enable Lipase activity. Predicted to be involved in lipid storage. Predicted to be located in endoplasmic reticulum. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]

LDAH Products(7)

mRNA	Protein	Name
NM_001282719.2	NP_001269648.1	lipid droplet-associated hydrolase isoform b
NM_001282720.2	NP_001269649.1	lipid droplet-associated hydrolase isoform c
NM_001282721.2	NP_001269650.1	lipid droplet-associated hydrolase isoform d
NM_001282722.2	NP_001269651.1	lipid droplet-associated hydrolase isoform d
NM_001282723.2	NP_001269652.1	lipid droplet-associated hydrolase isoform e
NM_001282724.2	NP_001269653.1	lipid droplet-associated hydrolase isoform f
NM_021925.4	NP_068744.1	lipid droplet-associated hydrolase isoform a

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol homeostasis	IMP IMP: Inferred from mutant phenotype	24357060	GOA
involved in intracellular triglyceride homeostasis	IMP IMP: Inferred from mutant phenotype	28578400	GOA
acts upstream of positive effect lipid droplet fusion	IDA IDA: Inferred from direct assay	28578400	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	28578400	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	28578400	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LDAH Protein Structure

LIDHydrolase

0
100
200
300
325 a.a.

Protein Preferred Names

Protein Names

lipid droplet-associated hydrolase

UPF0554 protein C2orf43

Related Diseases

Diseases

Alias

Rectum Adenocarcinoma

Rectal Adenocarcinoma

Adenocarcinoma Of Rectum

Acute Hemorrhagic Leukoencephalitis

Ahl	Acute Haemorrhagic Leucoencephalitis Of Weston Hurst
Leukoencephalitis, Acute Hemorrhagic	Acute Hemorrhagic Encephalomyelitis
Acute Necrotizing Hemorrhagic Leukoencephalitis	Weston-Hurst Syndrome
Ahle	Acute Haemorrhagic Leucoencephalitis
Hurst Disease	Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal
Postimmunization Or Postvaccinal Leukoencephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07567	LDAH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LDAH	RGD	RGD:1311648
Macaca mulatta	LDAH	VGNC	VGNC:74130
Mus musculus	LDAH	MGD	MGI:1916082
Canis familiaris	LDAH	VGNC	VGNC:42617
Bos taurus	LDAH	VGNC	VGNC:30821
Felis catus	LDAH	VGNC	VGNC:63207

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