Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

HEXA

Description

hexosaminidase A (alpha polypeptide)

Protein class

Candidate cardiovascular disease genes, Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

Medium

Entrez gene summary

This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

11 in total
0 with predicted TM region
8 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Show image »

Staining summary

Most of the normal tissues displayed moderate cytoplasmic positivity with a granular pattern. Strong staining was observed in lung macrophages, stomach, gall bladder, adrenal gland, prostate and Leydig cells. Pneumocytes, squamous epithelia, skin, glial cells, cerebellum and lymphoid tissues were negative.

Tissue specificity

Staining in 36 out of 79 cell types

Reliability (Single)

Antibodies in assay

HPA054583
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

? »

Staining summary

Antibody staining in 29% of the cancers

Antibodies in assay

HPA054583
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

? »

RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA054583

 

A-431 Skin High

-

A-549 Lung High

-

CACO-2 Colon High

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow Not detected

-

RT-4 Urinary bladder High

-

U-2 OS Bone High

-

U-251 MG Brain High

-

ANTIBODY SUMMARY

? »

Antibody

Clonality

Validation

HPA054583 pAb