Gene: AAMDC
Alternate names for this Gene: C11orf67|CK067|PTD015
Gene Summary:
Gene is located in Chromosome: 11
Location in Chromosome : 11q14.1
Description of this Gene: adipogenesis associated Mth938 domain containing
Type of Gene: protein-coding
Gene: RSF1
Alternate names for this Gene: HBXAP|RSF-1|XAP8|p325
Gene Summary: This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone.
Gene is located in Chromosome: 11
Location in Chromosome : 11q14.1
Description of this Gene: remodeling and spacing factor 1
Type of Gene: protein-coding
rs2186564 in
AAMDC;RSF1 gene and
Graves Disease
PMID 31050781 2019 Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.
rs2186564 in
AAMDC;RSF1 gene and
Thyrotoxic periodic paralysis
PMID 31050781 2019 Two new TPP-specific susceptibility loci were identified: DCHS2 on 4q31.3 (rs1352714: odds ratio [OR], 1.58; 95% CI, 1.35-1.85; P = 1.24 × 10-8) and C11orf67 on 11q14.1 (rs2186564: OR, 1.50; 95% CI, 1.29-1.74; P = 2.80 × 10-7).