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

Also Known as ALS; ACLSD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3483

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
Cellular Component GO Annotation Evidence Références 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

IGFALS Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P810245 ALS Antibody (YA9589) WB, ICC/IF, IF-Tissue, IP, ELISA human

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
Others IGFALS NCBI