LDAH - lipid droplet associated hydrolase Gene

Also Known as hLDAH; C2orf43

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 60526

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
Biological Process GO Annotation Evidence References 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 References 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

LIDHydrolase: Lipid-droplet associated hydrolase (44 - 303)

  • 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

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
Others LDAH NCBI