Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	14	2595	2q35	ABCA12	ATP binding cassette subfamily A member 12
Mouse	-	-	1 35.81 cM	Abca12	ATP-binding cassette, sub-family A member 12
Rat	-	-	9q33	Abca12	ATP binding cassette subfamily A member 12

Previous and Unofficial Names

ICR2B | LI2 | ichthyosis congenita II, lamellar ichthyosis B | ATP-binding cassette sub-family A member 12 | ATP-binding cassette, subfamily A (ABC1), member 12 | ATP-binding cassette

Database Links
Alphafold	Q86UK0 (Hs)
Ensembl Gene	ENSG00000144452 (Hs), ENSMUSG00000050296 (Mm), ENSRNOG00000015248 (Rn)
Entrez Gene	26154 (Hs), 74591 (Mm), 301482 (Rn)
Human Protein Atlas	ENSG00000144452 (Hs)
KEGG Gene	hsa:26154 (Hs), mmu:74591 (Mm), rno:301482 (Rn)
OMIM	607800 (Hs)
Orphanet	ORPHA117620 (Hs)
Pharos	Q86UK0 (Hs)
UniProtKB	Q86UK0 (Hs)
Wikipedia	ABCA12 (Hs)

Clinically-Relevant Mutations and Pathophysiology
Disease:  Congenital non-bullous ichthyosiform erythroderma Orphanet: ORPHA79394 References:  1
Disease:  Ichthyosis, congenital, autosomal recessive 4A; ARCI4A Synonyms: Lamellar ichthyosis [Orphanet: ORPHA313] OMIM: 601277 Orphanet: ORPHA313
Disease:  Ichthyosis, congenital, autosomal recessive 4B; ARCI4B Synonyms: Harlequin ichthyosis [Orphanet: ORPHA457] OMIM: 242500 Orphanet: ORPHA457 References:  2