A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 18

Back to search Result
OMIM Number

607512

NCBI Gene ID

170692

Uniprot ID

Q8TE60

Length

152,907 bases

No. of Exons

23

No. of isoforms

2

Protein Name

A disintegrin and metalloproteinase with thrombospondin motifs 18

Molecular Mass

135167 Da

Amino Acid Count

1221

Genomic Location

chr16:77,282,127-77,435,033

Gene Map Locus
16q23.1

Description

ADAMTS18 gene encodes a protein belonging to the ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin Motifs) protein family.  This family consists of a group of secreted proteases that control several cell functions.  In all, there are 19 secreted metalloproteinases within this family that share several distinct protein modules, including a propeptide region, a disintegrin-like domain, a metalloproteinase domain, and a thrombospondin type 1 (TS) motif, while they differ in the number of C-terminal TS motifs, and some of the proteins have unique C-terminal domains. 

There is evidence pointing towards ADAMTS18 metalloproteinase having multiple functions.  However, the exact function of this protein in various pathophysiological processes is not clear.  It has been shown to be a bone mass candidate and is known to be associated with some inherited retinal dystrophies, MMCAT syndrome, and white matter integrity degeneration.  In addition, it functions as a tumor suppressor gene, and also maintains hemostatic balance by inducing platelet fragmentation. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_199355.4:c.1298C>ASaudi ArabiaNC_000016.10:g.77359342G>TPathogenicPathogenicMicrocornea, Myopic Chorioretinal Atrophy, And TelecanthusNG_031879.2:g.80773C>A; NM_199355.4:c.1298C>A; NP_955387.1:p.Thr433Asn2056676844
NM_199355.4:c.1559A>GUnited Arab EmiratesNC_000016.10:g.77353788T>CLikely PathogenicMicrocornea, Myopic Chorioretinal Atrophy, And TelecanthusNG_031879.2:g.86327A>G; NM_199355.4:c.1559A>G; NP_955387.1:p.Gln520Arg

Other Reports

Saudi Arabia

Khan et al. 2012 described a consanguineous Saudi family with an 8 year old girl affected with Knobloch syndrome.  She was found to carry a homozygous mutation in the ADAMTS18 gene (c.536C>T; p.S179L). 

© CAGS 2024. All rights reserved.