MALRD1
MAM and LDL receptor class A domain containing 1
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]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs57243552 | 10:19,392,925 | A/G | — | benign |
| rs16918253 | 10:19,405,531 | G/A | — | — |
| rs11008573 | 10:19,417,181 | C/T | — | benign |
| rs78076387 | 10:19,417,208 | G/A | — | likely benign |
| rs12779623 | 10:19,425,531 | A/G | — | benign |
| rs10826986 | 10:19,425,704 | A/G | — | benign |
| rs182825388 | 10:19,454,665 | T/G | — | benign |
| rs78786296 | 10:19,454,715 | G/A | — | benign |
| rs16918344 | 10:19,492,702 | C/T | — | benign |
| rs72786554 | 10:19,494,660 | G/C | intron variant | — |
| rs76949612 | 10:19,698,497 | A/G | intron variant | — |
| rs12267418 | 10:19,714,554 | G/A | intron variant | — |
| rs117117480 | 10:19,739,313 | G/C | — | benign |
| rs35934077 | 10:19,780,551 | A/G | — | benign |
| rs2358413 | 10:19,814,044 | A/C | — | — |
| rs149845998 | 10:19,881,501 | G/A | regulatory region variant | — |
| rs1326986 | 10:19,929,513 | T/C | intron variant | — |
| rs11010905 | 10:19,934,813 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.