FAAA_HUMAN
Source:
hRBCD
; ID:
IPI00031708
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
FAH
Protein names and data:
FAAA_HUMAN
, Fumarylacetoacetase; FAA; 3.7.1.2
, Beta-diketonase; Fumarylacetoacetate hydrolase
Lenght: 419 a.a.
Mass: 46374 Da
fasta formatted sequence
Catalytic activity:
4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate.
Pathway:
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6.
Disease:
( OMIM:
276700
613871
)
Tyrosinemia 1 (TYRO1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
Genetic variants
16 - 16
N -> I (in TYRO1; loss of activity). VAR_005205
35 - 35
A -> T (in TYRO1; atypical mild phenotype). VAR_065454
62 - 62
F -> C (in TYRO1; loss of activity). VAR_005206
64 - 64
Q -> H (in TYRO1). VAR_005207
134 - 134
A -> D (in TYRO1; loss of activity). VAR_005208
158 - 158
G -> D (in TYRO1). VAR_005209
166 - 166
V -> G (in TYRO1). VAR_005210
193 - 193
C -> R (in TYRO1; loss of activity). VAR_005211
207 - 207
G -> D (in TYRO1). VAR_005212
233 - 233
D -> V (in TYRO1; loss of activity). VAR_005213
234 - 234
W -> G (in TYRO1; loss of activity). VAR_005214
249 - 249
P -> T (in TYRO1). VAR_005215
261 - 261
P -> L (in TYRO1). VAR_005216
279 - 279
Q -> R (in TYRO1; may affect splicing resulting in skipping of exon 8 alone or together with exon 9; lower activity as compared to wild type). VAR_065455
294 - 294
T -> P (in TYRO1). VAR_005217
337 - 337
G -> S (in TYRO1). VAR_005218
341 - 341
R -> W (in TYRO1; pseudo-deficient phenotype; lower activity; dbSNP:rs11555096). VAR_005219
11555096
342 - 342
P -> L (in TYRO1; loss of activity). VAR_005220
366 - 366
Missing (in TYRO1). VAR_005221
369 - 369
G -> V (in TYRO1). VAR_005222
381 - 381
R -> G (in TYRO1; loss of activity). VAR_005223
405 - 405
F -> H (in TYRO1; requires 2 nucleotide substitutions). VAR_005224
Database cross-references
UniProt:
P16930
Ensembl:
ENST00000261755
Ensembl:
ENST00000407106
Ensembl:
ENST00000561421
MIM:
276700
MIM:
613871
neXtProt:
NX_P16930
Antibodypedia:
P16930
(may not find the protein thus also not any antibody)
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