ESD - esterase D Gene

Homo sapiens

Also known as FGH

Gene ID: 2098 | Gene type: protein coding

About ESD

Cytogenetic location: 13q14.2 Genomic coordinates (GRCh38): 13:46,771,256-46,797,700 (from NCBI)

This gene has 5 transcripts (splice variants) and 245 orthologues. Ubiquitous expression in thyroid (RPKM 31.6), ovary (RPKM 31.3) and 25 other tissues.

Summary

This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded Enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]

ESD Products(1)

mRNA	Protein	Name
NM_001984.2	NP_001975.1	S-formylglutathione hydrolase

ESD Protein Structure

Esterase

0
100
200
282 a.a.

Protein Preferred Names

Protein Names

S-formylglutathione hydrolase

esterase 10

Recombinant ESD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70279	Esterase D/FGH Protein, Human (His)	AAH01169.1 (M1-A282)	≥95%

Related Diseases

Diseases

Alias

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Retinoblastoma

RB	Trilateral Retinoblastoma
RB1	Retinoblastoma, Trilateral
Neuroblastoma Of Retina	Rb - Retinoblastoma
Eye Cancer, Retinoblastoma	Retinal Cancer
Retinal Tumor	Glioma, Retinal
Non-Hereditary Retinoblastoma	Childhood Cancer Retinoblastoma
Malignant Neoplasm Of Retina	Retinal Neoplasms

Cervical Non-Keratinizing Squamous Cell Carcinoma

Dermoid Cyst Of Ovary

Dermoid Cyst	Ovarian Dermoid Cyst
Teratoma, Ovarian

Bilateral Retinoblastoma

Familial Retinoblastoma

Hereditary Retinoblastoma