| Entrez Gene ID | 340895 |
|---|---|
| Official Gene Symbol | MALRD1 (GeneCards) |
| Full name | MAM and LDL receptor class A domain containing 1 |
| Location | 10p12.31 |
| Other ids | Vega : OTTHUMG00000017779 MIM : 617715 HGNC : HGNC:24331 Ensembl : ENSG00000204740 |
| Other names | DIET1, C10orf112, bA265G8.2 |
| Summary | This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2017] |
Found 16 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 13966 | 340895 | MALRD1 | 10 | 19728667 | 19728667 | Asymptomatic | HiSeq X Ten |
| 14021 | 340895 | MALRD1 | 10 | 19611836 | 19611836 | Asymptomatic | HiSeq X Ten |
| 14037 | 340895 | MALRD1 | 10 | 19419656 | 19419656 | Asymptomatic | HiSeq X Ten |
| 14154 | 340895 | MALRD1 | 10 | 19622312 | 19622312 | Asymptomatic | HiSeq X Ten |
| 14258 | 340895 | MALRD1 | 10 | 19729976 | 19729976 | Asymptomatic | HiSeq X Ten |
| 14305 | 340895 | MALRD1 | 10 | 19567980 | 19567980 | Asymptomatic | HiSeq X Ten |
| 14512 | 340895 | MALRD1 | 10 | 19466488 | 19466488 | Asymptomatic | HiSeq X Ten |
| 14513 | 340895 | MALRD1 | 10 | 19878175 | 19878175 | Asymptomatic | HiSeq X Ten |
| 14522 | 340895 | MALRD1 | 10 | 19750270 | 19750270 | Asymptomatic | HiSeq X Ten |
| 14723 | 340895 | MALRD1 | 10 | 19793565 | 19793565 | Cockayne syndrome | HiSeq X Ten |
| 14729 | 340895 | MALRD1 | 10 | 19723048 | 19723048 | Cockayne syndrome | HiSeq X Ten |
| 14947 | 340895 | MALRD1 | 10 | 19842748 | 19842748 | Xeroderma Pigmentosum | HiSeq X Ten |
| 23536 | 340895 | MALRD1 | 10 | 19648047 | 19648047 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 23537 | 340895 | MALRD1 | 10 | 19779368 | 19779368 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27104 | 340895 | MALRD1 | 10 | 19986365 | 19986365 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 27105 | 340895 | MALRD1 | 10 | 20096892 | 20096892 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |