| Entrez Gene ID |
340895 (NCBI Gene) |
| Official Gene Symbol |
MALRD1 (GeneCards) |
| Number of variants in MALRD1 in this database |
16 (view all the variants) |
| Full name |
MAM and LDL receptor class A domain containing 1 |
| Band |
10p12.31 |
| Other IDs |
Vega:
OTTHUMG00000017779
OMIM:
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] |