ATP-Binding Cassette, Subfamily A, Member 12

Alternative Names

  • ABCA12
  • ATP-Binding Cassette Transporter 12
  • ATP-Binding Cassette 12
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OMIM Number

607800

NCBI Gene ID

26154

Uniprot ID

Q86UK0

Length

207,085 bases

No. of Exons

55

No. of isoforms

2

Protein Name

ATP-Binding Cassette Sub-Family A Member 12

Molecular Mass

293237 Da

Amino Acid Count

2595

Genomic Location

chr2:214,931,541-215,138,625

Gene Map Locus
2q35

Description

The ABCA12 gene encodes for the ATP-binding cassette sub-family A member 12 transporter protein.  Transporter proteins carry out the active transportation of various molecules across extra- and intracellular membranes.  The ABCA12 protein plays a major role in lipid transport in cells that make up the epidermis.  This lipid transport appears to be important for normal development of the skin.  Studies on animal models have suggested that the protein plays a critical role in the formation of the skin's permeability barrier via an effect on the generation of a highly specialized class of ceramide esters.

Mutations in ABCA12 have been associated with disruption of the lamellar permeability barrier and skin ichthyoses of variable severity.  These include conditions like Ichthyosis, Congenital, Autosomal Recessive 4A and Harlequin Ichthyosis. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173076.2:c.2486dupUnited Arab EmiratesNC_000002.12:g.215007833dupLikely PathogenicIchthyosis Congenita, Harlequin Fetus TypeNG_007074.1:g.135595dup; NM_173076.2:c.2486dup; NP_775099.2:p.Arg830GlufsTer16
NM_173076.2:c.335delUnited Arab EmiratesNC_000002.12:g.215054647delLikely PathogenicIchthyosis, Congenital, Autosomal Recessive 4ANG_007074.1:g.88781del; NM_173076.2:c.335del; NP_775099.2:p.Ser112TyrfsTer25
NM_173076.3:c.2785C>TUnited Arab EmiratesNC_000002.12:g.215001636G>ALikely PathogenicIchthyosis, Congenital, Autosomal Recessive 4ANG_007074.1:g.141792C>T; NM_173076.3:c.2785C>T; NP_775099.2:p.Arg929Cys765288755
NM_173076.3:c.3470C>TSaudi Arabiachr2:214990856PathogenicIchthyosis, Congenital, Autosomal Recessive 4ANG_007074.1:g.152572C>T; NM_173076.3:c.3470C>T; NP_775099.2:p.Ser1157Leu780940154
NM_173076.3:c.6852G>CUnited Arab EmiratesNC_000002.12:g.214950879C>GLikely PathogenicIchthyosis, Congenital, Autosomal Recessive 4ANG_007074.1:g.192549G>C; NM_173076.3:c.6852G>C; NP_775099.2:p.Glu2284Asp757244082
NM_173076.3:c.6900C>ASaudi Arabiachr2:214949102PathogenicIchthyosis, Congenital, Autosomal Recessive 4ANG_007074.1:g.194326C>A; NM_173076.3:c.6900C>A; NP_775099.2:p.Phe2300Leu
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