HEM2_HUMAN
Source:
hRBCD
; ID:
IPI00010314
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
ALAD
Protein names and data:
HEM2_HUMAN
, Delta-aminolevulinic acid dehydratase; ALADH; 4.2.1.24
, Porphobilinogen synthase
Lenght: 330 a.a.
Mass: 36295 Da
fasta formatted sequence
Function:
Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen.
Catalytic activity:
2 5-aminolevulinate = porphobilinogen + 2 H(2)O.
Pathway:
Porphyrin-containing compound metabolism; protoporphyrin- IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4.
Disease:
( OMIM:
125270
612740
)
Acute hepatic porphyria (AHEPP) [MIM:612740]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
There are two common alleles of ALAD. Individuals heterozygous or homozygous for ALAD*2 Asn-59 have significantly higher blood lead levels than do ALAD*1 Lys-59 homozygotes when exposed to environmental lead.
12 - 12
F -> L (in an asymptomatic patient with ALAD deficiency; hexamer with almost no residual activity; also found in a hereditary coproporphyria patient carrying the R-279 mutation in CPOX). VAR_020973
59 - 59
K -> N (in allele ALAD*2; 10% of population; fully active octamer; dbSNP:rs1800435). VAR_003633
1800435
133 - 133
G -> R (in AHEPP; mixture of about 50% hexamer and 50% octamer; about 10% residual activity). VAR_003634
153 - 153
V -> M (in AHEPP; about 95% octamer; about 40% residual activity). VAR_020974
240 - 240
R -> W (in AHEPP; mixture of about 80% hexamer and 20% octamer; about 4% residual activity). VAR_003635
274 - 274
A -> T (in AHEPP; mixture of about 14% hexamer and 86% octamer; about 20% enzyme residual activity). VAR_003636
275 - 275
V -> M (in AHEPP; mainly octamer; reduced activity). VAR_003637
Database cross-references
UniProt:
P13716
Ensembl:
ENST00000409155
MIM:
125270
MIM:
612740
neXtProt:
NX_P13716
Antibodypedia:
P13716
(may not find the protein thus also not any antibody)
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