Gene: LOC100287036

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ANKRD11

Alternate names for this Gene: ANCO-1|ANCO1|LZ16|T13

Gene Summary: This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: ankyrin repeat domain 11

Type of Gene: protein-coding

rs2353033 in LOC100287036;ANKRD11 gene and Hair Color PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

rs2353033 in LOC100287036;ANKRD11 gene and melanoma PMID 21706340 2012 A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.