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Protein Coding Gene : Arsa arylsulfatase A

Primary Identifier  MGI:88077 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  11883
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable arylsulfatase activity and calcium ion binding activity. Acts upstream of or within binding activity of sperm to zona pellucida. Located in plasma membrane. Is expressed in brain and genitourinary system. Used to study metachromatic leukodystrophy. Human ortholog(s) of this gene implicated in metachromatic leukodystrophy. Orthologous to human ARSA (arylsulfatase A).
PHENOTYPE: Homozygous mice exhibit impaired balance and spatial learning ability. Sulfatide accumulates in the white matter of the brain and a reduced myelin sheath thickness in the corpus callosum and optic nerves is seen. A low frequency of head tremor develops after 2 years of age. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-1396,
  • MGD-MRK-1402,
  • AW212749,
  • expressed sequence AW212749,
  • AS-A,
  • MGI:2146209,
  • Arsa,
  • arylsulfatase A,
  • ASA,
  • MGD-MRK-1407,
  • As-2,
  • As2

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

12 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For