2. Gene
  3. HEXD - hexosaminidase D Gene

HEXD - hexosaminidase D Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables beta-N-acetylhexosaminidase activity IDA
IDA: Inferred from direct assay
23099419 GOA
enables hexosaminidase activity IDA
IDA: Inferred from direct assay
19040401 GOA
Cellular Component GO Annotation Evidence Reference Source
located in extracellular vesicle IDA
IDA: Inferred from direct assay
23099419 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

HEXD Protein Structure

Glyco_hydro_20

Glyco_hydro_20: Glycosyl hydrolase family 20, catalytic domain (63 - 208)

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  • 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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06144 HEXD Human Pre-designed siRNA Set A Pre-designed Sets / 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