Gene: CYP21A2

Alternate names for this Gene: CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: cytochrome P450 family 21 subfamily A member 2

Type of Gene: protein-coding

Gene: NEU1

Alternate names for this Gene: NANH|NEU|SIAL1

Gene Summary: The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: neuraminidase 1

Type of Gene: protein-coding

rs104893972 in CYP21A2;NEU1 gene and Sialidase deficiency PMID 11063730 2000 Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

PMID 11829139 2002 Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

PMID 11279074 2001 Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.

PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

PMID 14695530 2004 Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.

PMID 25153125 2014 In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

PMID 8985184 1996 Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

PMID 10944856 2000 Molecular and structural studies of Japanese patients with sialidosis type 1.

PMID 9054950 1997 Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.

rs398123392 in CYP21A2;NEU1 gene and Type I Mucolipidosis PMID 16712870 2006 First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.

PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

PMID 24808020 2014 Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.