2. Gene
  3. TTC8 - tetratricopeptide repeat domain 8 Gene

TTC8 - tetratricopeptide repeat domain 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BBS8; RP51

Gene ID: 123016 | Gene type: protein coding

About TTC8

Cytogenetic location: 14q31.3 Genomic coordinates (GRCh38): 14:88,824,153-88,881,079 (from NCBI)

This gene has 13 transcripts (splice variants), 214 orthologues, 14 paralogues and is associated with 7 phenotypes. Broad expression in ovary (RPKM 24.2), adrenal (RPKM 16.1) and 24 other tissues.

Summary

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TTC8 Products(8)

mRNA Protein Name
NM_001288781.1 NP_001275710.1 tetratricopeptide repeat protein 8 isoform D
NM_001288782.1 NP_001275711.1 tetratricopeptide repeat protein 8 isoform E
NM_001288783.1 NP_001275712.1 tetratricopeptide repeat protein 8 isoform F
NM_001366535.2 NP_001353464.1 tetratricopeptide repeat protein 8 isoform G
NM_001366536.2 NP_001353465.1 tetratricopeptide repeat protein 8 isoform H
NM_144596.4 NP_653197.2 tetratricopeptide repeat protein 8 isoform A
NM_198309.3 NP_938051.1 tetratricopeptide repeat protein 8 isoform B
NM_198310.3 NP_938052.1 tetratricopeptide repeat protein 8 isoform C

TTC8 Protein Structure

TPR_15

TPR_15: Tetratricopeptide repeat (197 - 352)

TPR_1

TPR_1: Tetratricopeptide repeat (363 - 392)

TPR_11

TPR_11: TPR repeat (396 - 462)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 515 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 8

Bardet-Biedl syndrome type 8

Related Diseases

Diseases Alias
Retinitis Pigmentosa 51

RP51

Retinitis Pigmentosa, Type 51
Bardet-Biedl Syndrome 8

BBS8

Bardet-Biedl Syndrome, Type 8
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Nonsyndromic Retinitis Pigmentosa
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
Laurence-Moon Syndrome

LNMS

Laurence-Moon-Biedl Syndrome
Bardet-Biedl Syndrome 11

BBS11

Bardet-Biedl Syndrome

Bbs

Bardet-Biedl Syndrome, Type 11
Pigmented Paravenous Chorioretinal Atrophy

Pigmented Paravenous Retinochoroidal Atrophy

PPCRA

Pprca

Atrophy, Chorioretinal, Pigmented Paravenous
Retinitis Pigmentosa 74

RP74

Retinitis Pigmentosa, Type 74
Bardet-Biedl Syndrome 18

BBS18

Bardet-Biedl Syndrome, Type 18
Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42
Mckusick-Kaufman Syndrome

MKKS

Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation

Hmcs

Kaufman-Mckusick Syndrome

Hydrometrocolpos Syndrome

Hydrometrocolpos-Postaxial Polydactyly Syndrome

Kaufman Mckusick Syndrome

Mckusick Kaufman Syndrome

Mks
Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54
Bardet-Biedl Syndrome 19

BBS19

Bardet-Biedl Syndrome, Type 19
Nephronophthisis 4

NPHP4

Juvenile Nephronophthisis 4

Nephronophthisis 4, Juvenile

Nephronophthisis, Type 4
Bardet-Biedl Syndrome 4

BBS4

Bardet-Biedl Syndrome, Type 4
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1
Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15220 TTC8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus TTC8 VGNC VGNC:66677
Bos taurus TTC8 VGNC VGNC:55152
Rattus norvegicus TTC8 RGD RGD:1307769
Mus musculus TTC8 MGD MGI:1923510
Macaca mulatta TTC8 VGNC VGNC:79234
Canis familiaris TTC8 VGNC VGNC:47963