what does the Hexa protein domain depict? (in relation with tay sachs disease)

Biochemistry
6th Edition
ISBN:9781305577206
Author:Reginald H. Garrett, Charles M. Grisham
Publisher:Reginald H. Garrett, Charles M. Grisham
Chapter31: Completing The Protein Life Cycle: Folding, Processing, And Degradation
Section: Chapter Questions
Problem 15P
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what does the Hexa protein domain depict? (in relation with tay sachs disease) 

HEXA protein domain
115, 153
137 190
224
268
328
357
382
473 508
$29
84
443
Pham
Two domains were found on the HEXA sequence by SMART.
Active site
Glyco hydro_20
Two domains were found in HEXA protein by Pfam.
Glycoside hydrolase family 20,
Glycoside hydrolase family 20,
catalyticdomain
domain 2
ABNORMAL BREAKDOWN OF GM2 GANGLIOSIDE IN TAY-SACHS DISEASE
GM2
ganglioside
Lysosomes contain enzymes
(like Hex A) that break down
compounds in the body
GM2 ganglioside
is broken down
GM2 A
ganglioside
GM2 ganglioside
is not broken down
In people with Tay-Sachs
disease, the Hex A enzymes
in the lysosomes
do not function properly
GM2 ganglioside cannot
be broken down properly
and accumulates
in the brain
Figure 8: Schematic view of abnormal breakdown of GM2
ganglioside in Tay-Sachs disease.
Transcribed Image Text:HEXA protein domain 115, 153 137 190 224 268 328 357 382 473 508 $29 84 443 Pham Two domains were found on the HEXA sequence by SMART. Active site Glyco hydro_20 Two domains were found in HEXA protein by Pfam. Glycoside hydrolase family 20, Glycoside hydrolase family 20, catalyticdomain domain 2 ABNORMAL BREAKDOWN OF GM2 GANGLIOSIDE IN TAY-SACHS DISEASE GM2 ganglioside Lysosomes contain enzymes (like Hex A) that break down compounds in the body GM2 ganglioside is broken down GM2 A ganglioside GM2 ganglioside is not broken down In people with Tay-Sachs disease, the Hex A enzymes in the lysosomes do not function properly GM2 ganglioside cannot be broken down properly and accumulates in the brain Figure 8: Schematic view of abnormal breakdown of GM2 ganglioside in Tay-Sachs disease.
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