IGFALS - insulin like growth factor binding protein acid labile subunit Gene
Also Known as ALS; ACLSD
Species: Homo sapiens
About IGFALS
This gene has 3 transcripts (splice variants), 187 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 19.9) and stomach (RPKM 3.6).
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001146006.2 | NP_001139478.1 | insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor |
| NM_004970.3 | NP_004961.1 | insulin-like growth factor-binding protein complex acid labile subunit isoform 2 precursor |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of insulin-like growth factor ternary complex |
IDA
IDA: Inferred from direct assay
|
9497324 | GOA |
IGFALS Protein Structure
LRRNT: Leucine rich repeat N-terminal domain (40 - 73)
LRR_8: Leucine rich repeat (78 - 134)
LRR_1: Leucine Rich Repeat (195 - 217)
LRR_8: Leucine rich repeat (219 - 277)
LRR_8: Leucine rich repeat (292 - 350)
LRR_8: Leucine rich repeat (363 - 422)
LRR_8: Leucine rich repeat (436 - 494)
(506 - 521)
- 0
- 100
- 200
- 300
- 400
- 500
- 605 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
insulin-like growth factor-binding protein complex acid labile subunit |
|
IGFALS Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P810245 | ALS Antibody (YA9589) | WB, ICC/IF, IF-Tissue, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acid-Labile Subunit Deficiency |
|
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| Insulin-Like Growth Factor I |
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| Laron Syndrome |
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| Three M Syndrome 1 |
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| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
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| Body Dysmorphic Disorder |
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| Silver-Russell Syndrome 1 |
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| Rasopathy |
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| Noonan Syndrome 1 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | IGFALS | RGD | RGD:68429 |
| Canis familiaris | IGFALS | VGNC | VGNC:54036 |
| Macaca mulatta | IGFALS | VGNC | VGNC:73573 |
| Mus musculus | IGFALS | MGD | MGI:107973 |
| Others | IGFALS | NCBI |