Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin-like growth factor binding protein, acid labile subunit

The IGFALS gene encodes a transport protein synthesized in the liver and secreated into the blood stream. The tranporter stabilizes IGFBP3/IGF complexes and increases the plasma concentration of IGF for not being so rapidly degradated. Loss-of-function mutations cause autosomal recessive transport protein deficiency.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Insulin-like growth factor 1 transport protein deficiency
IGFALS

References:

1.

Ueki I et al. (2000) Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.

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2.

Leong SR et al. (1992) Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex.

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3.

Dai J et al. (1992) Molecular cloning of the acid-labile subunit of the rat insulin-like growth factor binding protein complex.

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4.

Domené HM et al. (2004) Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.

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5.

Domené HM et al. (2007) Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

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6.

Baxter RC et al. (1994) Purification and characterization of the acid-labile subunit of rat serum insulin-like growth factor binding protein complex.

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7.

Boisclair YR et al. (1996) Organization and chromosomal localization of the gene encoding the mouse acid labile subunit of the insulin-like growth factor binding complex.

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8.

OMIM.ORG article

Omim 601489 [^]
9.

Orphanet article

Orphanet ID 159982 [^]
10.

NCBI article

NCBI 3483 [^]
11.

Wikipedia article

Wikipedia EN (IGFALS) [^]
Update: April 29, 2019