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The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
IGFALS (Insulin Like Growth Factor Binding Protein Acid Labile Subunit) is a Protein Coding gene. Diseases associated with IGFALS include Acid-Labile Subunit Deficiency and Laron Syndrome. Among its related pathways are Relaxin signaling pathway and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include insulin-like growth factor binding. An important paralog of this gene is TLR8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0005520 | insulin-like growth factor binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | TAS,IBA | 21873635 |
GO:0031012 | extracellular matrix | IBA | 21873635 |
GO:0042567 | insulin-like growth factor ternary complex | IBA,IDA | 9497324 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | IEA | -- |
GO:0007165 | signal transduction | TAS | 1384485 |
GO:0044267 | cellular protein metabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Mecasermin | Approved, Investigational | Pharma | Carrier | 36 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 | ||
Zinc chloride | Approved, Investigational | Pharma | Target, inducer | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IGFALS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IGFALS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IGFALS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Igfals 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Igfals 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IGFALS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IGFALS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IGFALS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IGFALS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | igfals 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-66h3.1 30 |
|
||
IGFALS 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007059 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Toll-7 32 |
|
|
|
CG7896 32 |
|
|
|||
18w 32 |
|
|
|||
BG:DS03192.2 32 |
|
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CG8561 32 |
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trn 32 |
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CG5195 32 |
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CG6749 32 |
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Tollo 32 |
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CG9562 32 |
|
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haf 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711955 | Benign: not provided | 1,790,957(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
714690 | Benign: not provided | 1,792,405(-) | C/CG | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
716575 | Likely Benign: not provided | 1,792,067(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
718756 | Conflicting Interpretations: Acid-labile subunit deficiency; not provided | 1,790,982(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
723901 | Likely Benign: not provided | 1,790,849(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4856n54 | CNV | loss | 21841781 |
esv2422427 | CNV | duplication | 17116639 |
nsv1042986 | CNV | loss | 25217958 |
nsv1051692 | CNV | loss | 25217958 |
nsv1160328 | CNV | deletion | 26073780 |
nsv457336 | CNV | loss | 19166990 |
nsv471069 | CNV | loss | 18288195 |
nsv482185 | CNV | gain | 20164927 |
nsv517196 | CNV | gain+loss | 19592680 |
nsv518641 | CNV | loss | 19592680 |
nsv571170 | CNV | loss | 21841781 |
nsv571171 | CNV | gain+loss | 21841781 |
nsv571172 | CNV | loss | 21841781 |
nsv827500 | CNV | gain | 20364138 |
nsv952900 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
acid-labile subunit deficiency |
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|
laron syndrome |
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|
body dysmorphic disorder |
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|
amyotrophic lateral sclerosis 1 |
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