ARLY_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
ASL
Protein names and data:
ARLY_HUMAN
, Argininosuccinate lyase; ASAL; 4.3.2.1
, Arginosuccinase
Lenght: 464 a.a.
Mass: 51658 Da
fasta formatted sequence
Catalytic activity:
2-(N(omega)-L-arginino)succinate = fumarate + L-arginine.
Pathway:
Amino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 3/3. Nitrogen metabolism; urea cycle; L-arginine and fumarate from (N(omega)-L-arginino)succinate: step 1/1.
Disease:
( OMIM:
207900
608310
)
Argininosuccinic aciduria (ARGINSA) [MIM:207900]: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
31 - 31
D -> N (in ARGINSA). VAR_043106
95 - 95
R -> C (in ARGINSA; dbSNP:rs28940585). VAR_000676
28940585
111 - 111
R -> W (in ARGINSA). VAR_000677
113 - 113
R -> Q (in ARGINSA). VAR_043107
178 - 178
V -> M (in ARGINSA; dbSNP:rs28941473). VAR_017572
28941473
181 - 181
T -> S (in a breast cancer sample; somatic mutation). VAR_036281
186 - 186
R -> Q (in ARGINSA). VAR_043108
193 - 193
R -> Q (in ARGINSA). VAR_000678
200 - 200
G -> V (in a breast cancer sample; somatic mutation). VAR_036282
236 - 236
R -> W (in ARGINSA). VAR_043109
286 - 286
Q -> R (in ARGINSA; dbSNP:rs28941472). VAR_000679
28941472
335 - 335
V -> L (in ARGINSA). VAR_043110
379 - 379
R -> C (in ARGINSA; dbSNP:rs28940287). VAR_017573
28940287
382 - 382
M -> R (in ARGINSA). VAR_043111
385 - 385
R -> C (in ARGINSA; dbSNP:rs28940286). VAR_017574
28940286
456 - 456
R -> W (in ARGINSA). VAR_043112
Database cross-references
UniProt:
P04424
Ensembl:
ENST00000304874
Ensembl:
ENST00000380839
Ensembl:
ENST00000395331
Ensembl:
ENST00000395332
MIM:
207900
MIM:
608310
neXtProt:
NX_P04424
Antibodypedia:
P04424
(may not find the protein thus also not any antibody)
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