HEXD - hexosaminidase D Gene

Homo sapiens

Also known as HEXDC

Gene ID: 284004 | Gene type: protein coding

About HEXD

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,418,347-82,442,645 (from NCBI)

This gene has 17 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues.

Summary

Enables beta-N-acetylhexosaminidase activity. Predicted to be involved in carbohydrate metabolic process. Located in extracellular vesicle. [provided by Alliance of Genome Resources, Apr 2022]

HEXD Products(4)

mRNA	Protein	Name
NM_001330542.2	NP_001317471.1	hexosaminidase D isoform 2
NM_001369487.1	NP_001356416.1	hexosaminidase D isoform 3
NM_001369488.1	NP_001356417.1	hexosaminidase D isoform 4
NM_173620.3	NP_775891.2	hexosaminidase D isoform 1

HEXD Protein Structure

Glyco_hydro_20

0
100
200
300
400
486 a.a.

Protein Preferred Names

Protein Names

hexosaminidase D

N-acetyl-beta-galactosaminidase

Related Diseases

Diseases

Alias

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy	Mucolipidosis Iii
Ml Iii Alpha/Beta	Mucolipidosis Iiia
Ml Iiia	Ml Iii
Ml 3 A	Ml3
Mucolipidosis Type 3a	Mucolipidosis Iii, Variant
Mucolipidosis Type Iii Alpha/Beta	Ml 3 Alpha/Beta
Mucolipidosis Type 3 Alpha/Beta	Mucolipidosis Type 3
Mucolipidosis Type Iii Complementation Group A	MLIIIA
Cariant Pseudo-Hurler Polydystrophy	Mucolipidosis, Type Iii Alpha/Beta
Mucolipidosis, Type Iii, Alpha/Beta

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06144	HEXD Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HEXD	MGD	MGI:3605542
Canis familiaris	HEXD	VGNC	VGNC:106601
Rattus norvegicus	HEXD	RGD	RGD:2302323
Bos taurus	HEXD	VGNC	VGNC:55838
Felis catus	HEXD	VGNC	VGNC:99075
Macaca mulatta	HEXD	VGNC	VGNC:99158