LP36032-8
GALT gene
Active
Descriptions
The GALT gene is located on chromosome 9p13.3 and encodes galactose-1-phosphate uridyl transferase, an enzyme that plays a key role in galactose metabolism. GALT mutations are associated with decreased or absent enzymatic activity, which results in the disease galactosemia. Three common mutations are p.Gln188Arg, p.Lys285Asn, and p.Ser135Leu. Classic galactosemia presents in the newborn period with vomiting, jaundice, hypoglycemia, hepatosplenomegaly, hypotonia and sepsis. If not treated immediately by removing lactose from the diet, the disease can be associated with severe disability or death. [OMIM: 230400] Source: Regenstrief LOINC, OMIM: 230400
The GALT gene (galactose-1-phosphate uridylyltransferase) [HGNC Gene ID:4135] is located on chromosome 9p13. 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] [NCBI Gene ID:2592] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- GALT gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-08-30
- Construct for LOINC Short Name
- GALT gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | GALT 基因 Synonyms: 半乳糖-1-磷酸尿苷酰转移酶（Galactose-1-phosphate uridylyltransferase， |
| et-EE | Estonian (Estonia) | GALT geen |
| es-ES | Spanish (Spain) | Gen GALT |
| it-IT | Italian (Italy) | GALT, gene Synonyms: Gene GALT |
| tr-TR | Turkish (Turkey) | GALT geni |
| ru-RU | Russian (Russian Federation) | GALT ген |
| nl-NL | Dutch (Netherlands) | GALT-gen Synonyms: GALT gen |
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