Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

GALT

contributors: mct/npt - updated : 25-08-2009

HGNC name	galactose-1-phosphate uridylyltransferase
HGNC id	4135

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	cotranscripted and intergenically spliced with IL1R1

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000155 11 - 1347 NP_000146 44 379 - Magrangeas, Carney (2009) NM_147131 - - 2603 NP_667342 - 126 - Magrangeas NM_147132 - - 2200 NP_667343 - 162 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

galactose-1-phosphate uridylyltransferase type 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

involved in the second step of galactose metabolism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GALTD

related resource

Galactosaemia Galactose-1-Phosphate Uridyl Transferase Mutation Analysis Database Research

Susceptibility

Variant & Polymorphism other	mutation K285N associated with idiopathic presenile cataract

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS