Sorting Nexin 10

Alternative Names

  • SNX10
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OMIM Number

614780

NCBI Gene ID

29887

Uniprot ID

Q9Y5X0

Length

82489 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Sorting nexin-10

Molecular Mass

23598Da

Amino Acid Count

201

Genomic Location

chr7:26291895-26374383

Gene Map Locus
7p15.2

Description

SNX10  encodes a protein that belongs to sorting nexin family, which is involved in intracellular trafficking and endosome homeostasis regulation. Sorting nexin-10 protein is also known to play an important role in cilium biogenesis and osteoclast differentiation.

Mutations in SNX10  is associated with autosomal recessive osteopetrosis-8 and autosomal recessive malignant osteopetrosis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001199835.1:c.112-1G>CUnited Arab EmiratesNC_000007.14:g.26364534G>CLikely PathogenicOsteopetrosis, Autosomal Recessive 8NG_033902.1:g.77640G>CNP_001186764.1:p.?
NM_001199835.1:c.425_426delSaudi ArabiaNC_000007.14:g.26371934_26371935delUncertain SignificanceOsteopetrosis, Autosomal Recessive 8NG_033902.1:g.85040_85041del; NM_001199835.1:c.425_426del; NP_001186764.1:p.Val142GlyfsTer12
NM_001199835.1:c.46C>TIraqChr7:26360996PathogenicPathogenicOsteopetrosis, Autosomal Recessive 8NG_033902.1:g.74102C>T; NM_001199835.1:c.46C>T; NP_001186764.1:p.Arg16Ter587777490139565
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