Property Summary

NCBI Gene PubMed Count 49
Grant Count 24
R01 Count 15
Funding $1,907,635.37
PubMed Score 144.40
PubTator Score 142.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -6.999 0.000
group 3 medulloblastoma -1.300 0.004
tuberculosis 2.300 0.020
breast carcinoma -1.500 0.023
lung adenocarcinoma -1.300 0.000
mucosa-associated lymphoid tissue lympho... 4.253 0.009
ovarian cancer -1.700 0.000
dermatomyositis 1.200 0.042

Gene RIF (30)

PMID Text
26300302 data indicate that the X-linked protoporphyria variants possess enhanced ALAS activity and ALA dissociation rates, as well as distinct structural properties from those of wild-type hALAS
25705881 The ALAS2 Y365C mutation impairs pyridoxal 5'-phosphate binding to ALAS2, destabilizing the enzyme. X inactivation was not highly skewed in WBC from affected women. This X-linked dominant mutation perturbs erythropoiesis via cell-nonautonomous effects.
25179834 the primary deficiency in ferrochelatase leads to a secondary increase in ALAS2 expression.
24829177 In this article we add a novel mutation to the previously described 61 different ALAS2 mutations identified in X-linked sideroblastic anaemia patients.
24166784 5 families with X-linked sideroblastic anemia had mutations in a GATA transcription factor binding site located in a transcriptional enhancer element in intron 1 of the ALAS2 gene.
23935018 the 130-base pair enhancer region located in the first intron of the ALAS2 gene should be examined in patients with congenital sideroblastic anemia in whom the gene responsible is unknown.
23364466 Loss-of-function FECH and gain-of-function erythroid-specific ALAS2 mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
23348515 ALAS2 gain-of-function mutations increas the specific activity (DeltaAT, DeltaAGTG and p.Q548X) or stability (DeltaG) of the enzyme, thereby leading to the increased erythroid protoporphyrin accumulation causing X-linked protoporphyria.
23263862 A large gain-of-function domain within the C-terminus of ALAS2 is associated with X-linked dominant protoporphyria.
23223129 Late-onset photosensitivity was caused by ALAS2 mutation in a family with dominant protoporphyria.
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AA Sequence

MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPSWAKGHC      1 - 70
PFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGN     71 - 140
YVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQ    141 - 210
ATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYS    211 - 280
DAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQY    281 - 350
GALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT    351 - 420
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLC    421 - 490
DLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRR    491 - 560
PVHFELMSEWERSYFGNMGPQYVTTYA                                               561 - 587
//

Text Mined References (51)

PMID Year Title
26300302 2015 Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
25705881 2015 X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.
25416956 2014 A proteome-scale map of the human interactome network.
25179834 2015 In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.
24829177 2014 X-linked sideroblastic anaemia due to ALAS? mutations in the Netherlands: a disease in disguise.
24166784 2014 X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
23935018 2014 Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.
23364466 2013 Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
23348515 2013 Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
23263862 2013 Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
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