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Gene : GALT Homo sapiens

Name  ? galactose-1-phosphate uridylyltransferase Cytological Location  9p13.3
Brief Description  galactose-1-phosphate uridylyltransferase
description  Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
  • synonyms:
  • OTTHUMG00000019836,
  • M60091,
  • GALT,
  • uc003zve.5,
  • NM_000155,
  • HGNC:4135
  • identifiers:
  • 2592,
  • ENSG00000213930,
  • GALT

Genome feature

Region: gene ? Length: 4010  
Location: 9:34646589-34650598 Cyto location: 9p13.3


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results