Harmonizome 3.0

Smith-Magenis syndrome chromosome region, candidate 8

Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025]

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

Beukes familial hip dysplasia

Osteoarthritis, generalized, without dysplasia, susceptibility to

anal sphincter dysplasia

Ectodermal dysplasia 5, hair/nail type

Ectodermal dysplasia 7, hair/nail type

Ectodermal dysplasia 6, hair/nail type

adrenocortical dysplasia homolog (mouse)

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

Spondyloepiphyseal dysplasia tarda, autosomal dominant

Acetabular dysplasia

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

Developmental dysplasia of the hip 2

Ectodermal dysplasia 8, hair/tooth/nail type

Nail dysplasia, isolated congenital

Ectodermal dysplasia-syndactyly syndrome 2

primary retinal dysplasia

Acropectorovertebral dysplasia (F syndrome)

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

mental retardation-skeletal dysplasia

torticollis, keloids, cryptorchidism and renal dysplasia

Mesomelic dysplasia, Kantaputra type

Otodental dysplasia chromosome deletion syndrome

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1