IGFALS Chromosome 16

Insulin like growth factor binding protein acid labile subunit

18 variants 18 Health Risk

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What This Gene Does

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]

Associated Conditions (3)

Short stature due to primary acid-labile subunit deficiency

IGFALS-related disorder

Inborn genetic diseases

Key Variants

RS141460735

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS182305760

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS35128702

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS35706152

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS36068954

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS368097770

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS376070681

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS548958500

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS750405773

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS768231769

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS776965925

Conflicting classifications of pathogenicity

Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency

Health Risk

RS9282730

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (18)

RSID	Category	Clinical Significance	Conditions
RS141460735	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS182305760	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder, Short stature due to primary acid-labile subunit deficiency
RS35128702	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency
RS35706152	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS36068954	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, IGFALS-related disorder, Short stature due to primary acid-labile subunit deficiency
RS368097770	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency
RS376070681	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS548958500	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency
RS750405773	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS768231769	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS776965925	Health Risk	Conflicting classifications of pathogenicity	Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases, Short stature due to primary acid-labile subunit deficiency
RS9282730	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1344337662	Health Risk	Likely pathogenic	—
RS2548157942	Health Risk	Likely pathogenic	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS551618643	Health Risk	Likely pathogenic	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS755775132	Health Risk	Likely pathogenic	—
RS121909247	Health Risk	Pathogenic	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS587776686	Health Risk	Pathogenic	Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency