Tetratricopeptide Repeat Domain-Containing Protein 8

Alternative Names

  • TTC8
  • BBS8 Gene
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OMIM Number

608132

NCBI Gene ID

123016

Uniprot ID

Q8TAM2

Length

56,926 bases

No. of Exons

18

No. of isoforms

5

Protein Name

Tetratricopeptide repeat protein 8

Molecular Mass

61534 Da

Amino Acid Count

541

Genomic Location

chr14:88,824,153-88,881,078

Gene Map Locus
14q31.3

Description

TTC8 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_144596.3:c.489+1G>ATunisiaNC_000014.9:g.88841197G>ABardet-Biedl Syndrome 8NG_008126.2:g.22045G>A; NM_144596.3:c.489+1G>A
NM_144596.3:c.624+1G>ALebanonNC_000014.9:g.88843851G>APathogenicBardet-Biedl Syndrome 8NG_008126.1:g.24218G>A ; NM_144596.3:c.624+1G>A5877778082531
NM_198309.3:c.459G>AArabNC_000014.9:g.88841196G>ALikely Pathogenic,Pathogenic,Uncertain SignificanceBardet-Biedl Syndrome 8NG_008126.2:g.22044G>A; NM_198309.3:c.459G>A; NP_938051.1:p.Thr153=1191032862530
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