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  2. IGFALS - insulin like growth factor binding protein acid labile subunit Gene

IGFALS - insulin like growth factor binding protein acid labile subunit Gene

Homo sapiens

Also known as ALS; ACLSD

Gene ID: 3483 | Gene type: protein coding

About IGFALS

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,790,413-1,794,908 (from NCBI)

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
Gene Ontology
  • Cellular Component
Cellular Component GO Annotation Evidence Reference Source
part of insulin-like growth factor ternary complex IDA
IDA: Inferred from direct assay
9497324 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IGFALS Protein Structure

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (40 - 73)

LRR_8

LRR_8: Leucine rich repeat (78 - 134)

LRR_1

LRR_1: Leucine Rich Repeat (195 - 217)

LRR_8

LRR_8: Leucine rich repeat (219 - 277)

LRR_8

LRR_8: Leucine rich repeat (292 - 350)

LRR_8

LRR_8: Leucine rich repeat (363 - 422)

LRR_8

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

insulin-like growth factor binding protein complex acid labile chain

Related Diseases

Diseases Alias
Acid-Labile Subunit Deficiency

Short Stature Due To Primary Acid-Labile Subunit Deficiency

ACLSD

Acid-Labile Subunit, Deficiency Of

Decreased Levels Of Acid Labile Subunit

Growth Disorders

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency

IGF1 DEFICIENCY

Insulin-Like Growth Factor I, Resistance To

Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor I Resistance

IGF1RES

Igf-I Resistance

Somatomedin, End-Organ Insensitivity To

Somatomedin-C

Somatomedin-C, Resistance To

Growth Retardation With Sensorineural Deafness And Mental Retardation

Insulin-Like Growth Factor 1 Resistance To

Igf-1 Resistance

Somatomedin End-Organ Insensitivity To

Somatomedin-C Resistance To

Growth Restriction With Sensorineural Deafness And Intellectual Disability

Growth Delay-Deafness-Intellectual Disability Syndrome

Growth Delay-Hearing Loss-Intellectual Disability Syndrome

Igf-1 Deficiency

Primary Insulin-Like Growth Factor Deficiency

Resistance To Igf-1

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity To Somatomedin

Igf1 Resistance

Resistance To Insulin-Like Growth Factor I

Resistance To Somatomedin-C

Insulin-Like Growth Factor 1, Resistance To

Laron Syndrome

Growth Hormone Insensitivity Syndrome

Growth Hormone Receptor Deficiency

Laron Dwarfism

Pituitary Dwarfism Ii

Laron-Type Isolated Somatotropin Defect

Primary Growth Hormone Resistance

Laron-Type Dwarfism

Laron Type Pituitary Dwarfism I

Primary Growth Hormone Insensitivity

Primary Gh Resistance

Gh-R Deficiency

Growth Hormone Receptor Defect

Laron-Type Pituitary Dwarfism

Laron-Type Short Stature

Severe Gh Insensitivity

Ghis

Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

Complete Growth Hormone Insensitivity

Gh Receptor Deficiency

Primary Gh Insensitivity

Short Stature Due To Growth Hormone Resistance

LARS

Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Spondyloepiphyseal Dysplasia, Kimberley Type

SEDK

Spondyloepiphyseal Dysplasia Kimberley Type

Spondyloepiphyseal Dysplasia Type Kimberley

Dysplasia, Spondyloepiphyseal, Kimberley Type

Body Dysmorphic Disorder

Dysmorphophobia

Body Dysmorphia

Dysmorphic Syndrome

Body Dysmorphic Disorders

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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