HEXD - hexosaminidase D Gene

Also Known as HEXDC

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 284004

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 参考文献 由来
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 参考文献 由来
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)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 486 a.a.
Protein Preferred Names Protein Names

hexosaminidase D

  • N-acetyl-beta-galactosaminidase

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS06144 HEXD Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others HEXD NCBI