thrombospondin type laminin G domain and EAR repeats

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

From UniProt:

Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 98

From UniProt:

Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (ECTD14): A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. [MIM:618180]

Deafness, autosomal recessive, 98 (DFNB98): A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:614861]

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3

Molecular Location: base pairs 44,497,893 to 44,711,572 on chromosome 21 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3
  • C21orf29
  • DFNB98
  • ECTD14