AMFR Chromosome 16
Autocrine motility factor receptor
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What This Gene Does
This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000159461
Associated Conditions (2)
Spastic paraplegia 89
autosomal recessive
Key Variants
RS1961896737
Pathogenic
Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89
Health Risk
RS2543497074
Pathogenic
Health Risk
RS2543520411
Pathogenic
Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89
Health Risk
RS2543536595
Pathogenic
Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89
Health Risk
RS2543563198
Pathogenic
Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1961896737 | Health Risk | Pathogenic | Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89 |
| RS2543497074 | Health Risk | Pathogenic | — |
| RS2543520411 | Health Risk | Pathogenic | Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89 |
| RS2543536595 | Health Risk | Pathogenic | Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89 |
| RS2543563198 | Health Risk | Pathogenic | Spastic paraplegia 89, autosomal recessive, Spastic paraplegia 89 |