ENSG00000115850
Homo sapiens | |
Features
| Gene ID: | ENSG00000115850 | | | | | Biological name : | LCT | | | | | Synonyms : | lactase / LCT / P09848 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 2 | | Strand: | -1 | | Band: | q21.3 | | Gene start: | 135787840 | | Gene end: | 135837180 | | | | | Corresponding Affymetrix probe sets: | 206945_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000264162
Ensembl peptide - ENSP00000391231
NCBI entrez gene - 3938
See in Manteia.
OMIM - 603202
RefSeq - XM_017004088
RefSeq - NM_002299
RefSeq Peptide - NP_002290
swissprot - P09848
swissprot - H0Y4E4
Ensembl - ENSG00000115850
| | | | | Related genetic diseases (OMIM): | 223000 - Lactase deficiency, congenital, 223000 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001360 | Glycoside hydrolase family 1 | | IPR017853 | Glycoside hydrolase superfamily | | IPR018120 | Glycoside hydrolase family 1, active site | | IPR033132 | Glycosyl hydrolases family 1, N-terminal conserved site |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001942 | Metabolic acidosis | |
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| | HP:0001944 | Dehydration | |
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| | HP:0002014 | Diarrhea | |
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| | HP:0004789 | Lactose intolerance | |
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| | HP:0025130 | Decreased small intestinal mucosa lactase activity | "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." [] |
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Interacting proteins (from Reactome)
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